Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63414917_63415288delinsTCA2739277255KCNQ2c.1248-162_1457delinsA
c.1302-162_1511delinsA
c.699-162_908delinsA
c.1248-198_1421delinsA
c.906-198_1079delinsA
c.1218-162_1427delinsA
c.1218-198_1391delinsA
c.362-162_571delinsA
c.1272-162_1481delinsA
c.1176-162_1385delinsA
c.783-162_992delinsA
c.1179-162_1388delinsA
c.210-162_419delinsA
 ClinVar
20g.63415033C>ACA511339738KCNQ2c.1341G>T (p.Arg447=)
c.1395G>T (p.Arg465=)
c.792G>T (p.Arg264=)
c.1305G>T (p.Arg435=)
c.963G>T (p.Arg321=)
c.1311G>T (p.Arg437=)
c.1275G>T (p.Arg425=)
c.455G>T
c.3G>T (p.Arg1=)
c.1365G>T (p.Arg455=)
c.1269G>T (p.Arg423=)
c.876G>T (p.Arg292=)
c.1272G>T (p.Arg424=)
c.303G>T (p.Arg101=)
20g.63415033C>GCA511339740KCNQ2c.1341G>C (p.Arg447=)
c.1395G>C (p.Arg465=)
c.792G>C (p.Arg264=)
c.1305G>C (p.Arg435=)
c.963G>C (p.Arg321=)
c.1311G>C (p.Arg437=)
c.1275G>C (p.Arg425=)
c.455G>C
c.3G>C (p.Arg1=)
c.1365G>C (p.Arg455=)
c.1269G>C (p.Arg423=)
c.876G>C (p.Arg292=)
c.1272G>C (p.Arg424=)
c.303G>C (p.Arg101=)
20g.63415033C>TCA511339739KCNQ2c.1341G>A (p.Arg447=)
c.1395G>A (p.Arg465=)
c.792G>A (p.Arg264=)
c.1305G>A (p.Arg435=)
c.963G>A (p.Arg321=)
c.1311G>A (p.Arg437=)
c.1275G>A (p.Arg425=)
c.455G>A
c.3G>A (p.Arg1=)
c.1365G>A (p.Arg455=)
c.1269G>A (p.Arg423=)
c.876G>A (p.Arg292=)
c.1272G>A (p.Arg424=)
c.303G>A (p.Arg101=)
 gnomAD v4
20g.63415034delCA2695230083KCNQ2c.1341del (p.Ser448HisfsTer?)
c.1395del (p.Ser466HisfsTer?)
c.792del (p.Ser265HisfsTer?)
c.1305del (p.Ser436HisfsTer?)
c.963del (p.Ser322HisfsTer?)
c.1311del (p.Ser438HisfsTer?)
c.1275del (p.Ser426HisfsTer?)
c.455del
c.3del (p.Ser2HisfsTer?)
c.1365del (p.Ser456HisfsTer?)
c.1269del (p.Ser424HisfsTer?)
c.876del (p.Ser293HisfsTer?)
c.1272del (p.Ser425HisfsTer?)
c.303del (p.Ser102HisfsTer?)
20g.63415034C>ACA409646678KCNQ2c.1340G>T (p.Arg447Leu)
c.1394G>T (p.Arg465Leu)
c.791G>T (p.Arg264Leu)
c.1304G>T (p.Arg435Leu)
c.962G>T (p.Arg321Leu)
c.1310G>T (p.Arg437Leu)
c.1274G>T (p.Arg425Leu)
c.454G>T
c.2G>T (p.Arg1Leu)
c.1364G>T (p.Arg455Leu)
c.1268G>T (p.Arg423Leu)
c.875G>T (p.Arg292Leu)
c.1271G>T (p.Arg424Leu)
c.302G>T (p.Arg101Leu)
20g.63415034C=CA2374778818KCNQ2c.1340G= (p.Arg447=)
c.1394G= (p.Arg465=)
c.791G= (p.Arg264=)
c.1304G= (p.Arg435=)
c.962G= (p.Arg321=)
c.1310G= (p.Arg437=)
c.1274G= (p.Arg425=)
c.454G=
c.2G= (p.Arg1=)
c.1364G= (p.Arg455=)
c.1268G= (p.Arg423=)
c.875G= (p.Arg292=)
c.1271G= (p.Arg424=)
c.302G= (p.Arg101=)
20g.63415034C>GCA409646679KCNQ2c.1340G>C (p.Arg447Pro)
c.1394G>C (p.Arg465Pro)
c.791G>C (p.Arg264Pro)
c.1304G>C (p.Arg435Pro)
c.962G>C (p.Arg321Pro)
c.1310G>C (p.Arg437Pro)
c.1274G>C (p.Arg425Pro)
c.454G>C
c.2G>C (p.Arg1Pro)
c.1364G>C (p.Arg455Pro)
c.1268G>C (p.Arg423Pro)
c.875G>C (p.Arg292Pro)
c.1271G>C (p.Arg424Pro)
c.302G>C (p.Arg101Pro)
20g.63415034C>TCA409646680KCNQ2c.1340G>A (p.Arg447Gln)
c.1394G>A (p.Arg465Gln)
c.791G>A (p.Arg264Gln)
c.1304G>A (p.Arg435Gln)
c.962G>A (p.Arg321Gln)
c.1310G>A (p.Arg437Gln)
c.1274G>A (p.Arg425Gln)
c.454G>A
c.2G>A (p.Arg1Gln)
c.1364G>A (p.Arg455Gln)
c.1268G>A (p.Arg423Gln)
c.875G>A (p.Arg292Gln)
c.1271G>A (p.Arg424Gln)
c.302G>A (p.Arg101Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415035G>ACA9958462KCNQ2c.1339C>T (p.Arg447Trp)
c.1393C>T (p.Arg465Trp)
c.790C>T (p.Arg264Trp)
c.1303C>T (p.Arg435Trp)
c.961C>T (p.Arg321Trp)
c.1309C>T (p.Arg437Trp)
c.1273C>T (p.Arg425Trp)
c.453C>T
c.1C>T (p.Arg1Trp)
c.1363C>T (p.Arg455Trp)
c.1267C>T (p.Arg423Trp)
c.874C>T (p.Arg292Trp)
c.1270C>T (p.Arg424Trp)
c.301C>T (p.Arg101Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415035G>CCA409646681KCNQ2c.1339C>G (p.Arg447Gly)
c.1393C>G (p.Arg465Gly)
c.790C>G (p.Arg264Gly)
c.1303C>G (p.Arg435Gly)
c.961C>G (p.Arg321Gly)
c.1309C>G (p.Arg437Gly)
c.1273C>G (p.Arg425Gly)
c.453C>G
c.1C>G (p.Arg1Gly)
c.1363C>G (p.Arg455Gly)
c.1267C>G (p.Arg423Gly)
c.874C>G (p.Arg292Gly)
c.1270C>G (p.Arg424Gly)
c.301C>G (p.Arg101Gly)
20g.63415035G=CA2374778819KCNQ2c.1339C= (p.Arg447=)
c.1393C= (p.Arg465=)
c.790C= (p.Arg264=)
c.1303C= (p.Arg435=)
c.961C= (p.Arg321=)
c.1309C= (p.Arg437=)
c.1273C= (p.Arg425=)
c.453C=
c.1C= (p.Arg1=)
c.1363C= (p.Arg455=)
c.1267C= (p.Arg423=)
c.874C= (p.Arg292=)
c.1270C= (p.Arg424=)
c.301C= (p.Arg101=)
20g.63415035G>TCA511339743KCNQ2c.1339C>A (p.Arg447=)
c.1393C>A (p.Arg465=)
c.790C>A (p.Arg264=)
c.1303C>A (p.Arg435=)
c.961C>A (p.Arg321=)
c.1309C>A (p.Arg437=)
c.1273C>A (p.Arg425=)
c.453C>A
c.1C>A (p.Arg1=)
c.1363C>A (p.Arg455=)
c.1267C>A (p.Arg423=)
c.874C>A (p.Arg292=)
c.1270C>A (p.Arg424=)
c.301C>A (p.Arg101=)
 dbSNP gnomAD v2 gnomAD v4
20g.63415036C>ACA409646682KCNQ2c.1338G>T (p.Arg446Ser)
c.1392G>T (p.Arg464Ser)
c.789G>T (p.Arg263Ser)
c.1302G>T (p.Arg434Ser)
c.960G>T (p.Arg320Ser)
c.1308G>T (p.Arg436Ser)
c.1272G>T (p.Arg424Ser)
c.452G>T
c.1362G>T (p.Arg454Ser)
c.1266G>T (p.Arg422Ser)
c.873G>T (p.Arg291Ser)
c.1269G>T (p.Arg423Ser)
c.300G>T (p.Arg100Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.63415036C=CA2374778820KCNQ2c.1338G= (p.Arg446=)
c.1392G= (p.Arg464=)
c.789G= (p.Arg263=)
c.1302G= (p.Arg434=)
c.960G= (p.Arg320=)
c.1308G= (p.Arg436=)
c.1272G= (p.Arg424=)
c.452G=
c.1362G= (p.Arg454=)
c.1266G= (p.Arg422=)
c.873G= (p.Arg291=)
c.1269G= (p.Arg423=)
c.300G= (p.Arg100=)
20g.63415036C>GCA409646683KCNQ2c.1338G>C (p.Arg446Ser)
c.1392G>C (p.Arg464Ser)
c.789G>C (p.Arg263Ser)
c.1302G>C (p.Arg434Ser)
c.960G>C (p.Arg320Ser)
c.1308G>C (p.Arg436Ser)
c.1272G>C (p.Arg424Ser)
c.452G>C
c.1362G>C (p.Arg454Ser)
c.1266G>C (p.Arg422Ser)
c.873G>C (p.Arg291Ser)
c.1269G>C (p.Arg423Ser)
c.300G>C (p.Arg100Ser)
20g.63415036C>TCA511339744KCNQ2c.1338G>A (p.Arg446=)
c.1392G>A (p.Arg464=)
c.789G>A (p.Arg263=)
c.1302G>A (p.Arg434=)
c.960G>A (p.Arg320=)
c.1308G>A (p.Arg436=)
c.1272G>A (p.Arg424=)
c.452G>A
c.1362G>A (p.Arg454=)
c.1266G>A (p.Arg422=)
c.873G>A (p.Arg291=)
c.1269G>A (p.Arg423=)
c.300G>A (p.Arg100=)
20g.63415037C>ACA409646684KCNQ2c.1337G>T (p.Arg446Met)
c.1391G>T (p.Arg464Met)
c.788G>T (p.Arg263Met)
c.1301G>T (p.Arg434Met)
c.959G>T (p.Arg320Met)
c.1307G>T (p.Arg436Met)
c.1271G>T (p.Arg424Met)
c.451G>T
c.1361G>T (p.Arg454Met)
c.1265G>T (p.Arg422Met)
c.872G>T (p.Arg291Met)
c.1268G>T (p.Arg423Met)
c.299G>T (p.Arg100Met)
 gnomAD v4
20g.63415037C>GCA409646685KCNQ2c.1337G>C (p.Arg446Thr)
c.1391G>C (p.Arg464Thr)
c.788G>C (p.Arg263Thr)
c.1301G>C (p.Arg434Thr)
c.959G>C (p.Arg320Thr)
c.1307G>C (p.Arg436Thr)
c.1271G>C (p.Arg424Thr)
c.451G>C
c.1361G>C (p.Arg454Thr)
c.1265G>C (p.Arg422Thr)
c.872G>C (p.Arg291Thr)
c.1268G>C (p.Arg423Thr)
c.299G>C (p.Arg100Thr)
20g.63415037C>TCA409646686KCNQ2c.1337G>A (p.Arg446Lys)
c.1391G>A (p.Arg464Lys)
c.788G>A (p.Arg263Lys)
c.1301G>A (p.Arg434Lys)
c.959G>A (p.Arg320Lys)
c.1307G>A (p.Arg436Lys)
c.1271G>A (p.Arg424Lys)
c.451G>A
c.1361G>A (p.Arg454Lys)
c.1265G>A (p.Arg422Lys)
c.872G>A (p.Arg291Lys)
c.1268G>A (p.Arg423Lys)
c.299G>A (p.Arg100Lys)
 gnomAD v4
20g.63415038T>ACA409646688KCNQ2c.1336A>T (p.Arg446Trp)
c.1390A>T (p.Arg464Trp)
c.787A>T (p.Arg263Trp)
c.1300A>T (p.Arg434Trp)
c.958A>T (p.Arg320Trp)
c.1306A>T (p.Arg436Trp)
c.1270A>T (p.Arg424Trp)
c.450A>T
c.1360A>T (p.Arg454Trp)
c.1264A>T (p.Arg422Trp)
c.871A>T (p.Arg291Trp)
c.1267A>T (p.Arg423Trp)
c.298A>T (p.Arg100Trp)
 dbSNP gnomAD v4
20g.63415038T>CCA409646687KCNQ2c.1336A>G (p.Arg446Gly)
c.1390A>G (p.Arg464Gly)
c.787A>G (p.Arg263Gly)
c.1300A>G (p.Arg434Gly)
c.958A>G (p.Arg320Gly)
c.1306A>G (p.Arg436Gly)
c.1270A>G (p.Arg424Gly)
c.450A>G
c.1360A>G (p.Arg454Gly)
c.1264A>G (p.Arg422Gly)
c.871A>G (p.Arg291Gly)
c.1267A>G (p.Arg423Gly)
c.298A>G (p.Arg100Gly)
 dbSNP
20g.63415038T>GCA511339745KCNQ2c.1336A>C (p.Arg446=)
c.1390A>C (p.Arg464=)
c.787A>C (p.Arg263=)
c.1300A>C (p.Arg434=)
c.958A>C (p.Arg320=)
c.1306A>C (p.Arg436=)
c.1270A>C (p.Arg424=)
c.450A>C
c.1360A>C (p.Arg454=)
c.1264A>C (p.Arg422=)
c.871A>C (p.Arg291=)
c.1267A>C (p.Arg423=)
c.298A>C (p.Arg100=)
 dbSNP gnomAD v4
20g.63415038_63415040delinsTCACA2374778821KCNQ2c.1334_1336delinsTGA (p.Val445=)
c.1388_1390delinsTGA (p.Val463=)
c.785_787delinsTGA (p.Val262=)
c.1298_1300delinsTGA (p.Val433=)
c.956_958delinsTGA (p.Val319=)
c.1304_1306delinsTGA (p.Val435=)
c.1268_1270delinsTGA (p.Val423=)
c.448_450delinsTGA
c.1358_1360delinsTGA (p.Val453=)
c.1262_1264delinsTGA (p.Val421=)
c.869_871delinsTGA (p.Val290=)
c.1265_1267delinsTGA (p.Val422=)
c.296_298delinsTGA (p.Val99=)
20g.63415039C>ACA511339746KCNQ2c.1335G>T (p.Val445=)
c.1389G>T (p.Val463=)
c.786G>T (p.Val262=)
c.1299G>T (p.Val433=)
c.957G>T (p.Val319=)
c.1305G>T (p.Val435=)
c.1269G>T (p.Val423=)
c.449G>T
c.1359G>T (p.Val453=)
c.1263G>T (p.Val421=)
c.870G>T (p.Val290=)
c.1266G>T (p.Val422=)
c.297G>T (p.Val99=)
20g.63415039C=CA2374778822KCNQ2c.1335G= (p.Val445=)
c.1389G= (p.Val463=)
c.786G= (p.Val262=)
c.1299G= (p.Val433=)
c.957G= (p.Val319=)
c.1305G= (p.Val435=)
c.1269G= (p.Val423=)
c.449G=
c.1359G= (p.Val453=)
c.1263G= (p.Val421=)
c.870G= (p.Val290=)
c.1266G= (p.Val422=)
c.297G= (p.Val99=)
20g.63415039C>GCA511339747KCNQ2c.1335G>C (p.Val445=)
c.1389G>C (p.Val463=)
c.786G>C (p.Val262=)
c.1299G>C (p.Val433=)
c.957G>C (p.Val319=)
c.1305G>C (p.Val435=)
c.1269G>C (p.Val423=)
c.449G>C
c.1359G>C (p.Val453=)
c.1263G>C (p.Val421=)
c.870G>C (p.Val290=)
c.1266G>C (p.Val422=)
c.297G>C (p.Val99=)
20g.63415039C>TCA511339748KCNQ2c.1335G>A (p.Val445=)
c.1389G>A (p.Val463=)
c.786G>A (p.Val262=)
c.1299G>A (p.Val433=)
c.957G>A (p.Val319=)
c.1305G>A (p.Val435=)
c.1269G>A (p.Val423=)
c.449G>A
c.1359G>A (p.Val453=)
c.1263G>A (p.Val421=)
c.870G>A (p.Val290=)
c.1266G>A (p.Val422=)
c.297G>A (p.Val99=)
 dbSNP gnomAD v2
20g.63415041_63415042delCA10583878KCNQ2c.1334_1335del (p.Val445GlufsTer?)
c.1388_1389del (p.Val463GlufsTer?)
c.785_786del (p.Val262GlufsTer?)
c.1298_1299del (p.Val433GlufsTer?)
c.956_957del (p.Val319GlufsTer?)
c.1304_1305del (p.Val435GlufsTer?)
c.1268_1269del (p.Val423GlufsTer?)
c.448_449del
c.1358_1359del (p.Val453GlufsTer?)
c.1262_1263del (p.Val421GlufsTer?)
c.869_870del (p.Val290GlufsTer?)
c.1265_1266del (p.Val422GlufsTer?)
c.296_297del (p.Val99GlufsTer?)
 ClinVar dbSNP
20g.63415040A>CCA409646689KCNQ2c.1334T>G (p.Val445Gly)
c.1388T>G (p.Val463Gly)
c.785T>G (p.Val262Gly)
c.1298T>G (p.Val433Gly)
c.956T>G (p.Val319Gly)
c.1304T>G (p.Val435Gly)
c.1268T>G (p.Val423Gly)
c.448T>G
c.1358T>G (p.Val453Gly)
c.1262T>G (p.Val421Gly)
c.869T>G (p.Val290Gly)
c.1265T>G (p.Val422Gly)
c.296T>G (p.Val99Gly)
20g.63415040A>GCA409646690KCNQ2c.1334T>C (p.Val445Ala)
c.1388T>C (p.Val463Ala)
c.785T>C (p.Val262Ala)
c.1298T>C (p.Val433Ala)
c.956T>C (p.Val319Ala)
c.1304T>C (p.Val435Ala)
c.1268T>C (p.Val423Ala)
c.448T>C
c.1358T>C (p.Val453Ala)
c.1262T>C (p.Val421Ala)
c.869T>C (p.Val290Ala)
c.1265T>C (p.Val422Ala)
c.296T>C (p.Val99Ala)
 gnomAD v4
20g.63415040A>TCA409646691KCNQ2c.1334T>A (p.Val445Glu)
c.1388T>A (p.Val463Glu)
c.785T>A (p.Val262Glu)
c.1298T>A (p.Val433Glu)
c.956T>A (p.Val319Glu)
c.1304T>A (p.Val435Glu)
c.1268T>A (p.Val423Glu)
c.448T>A
c.1358T>A (p.Val453Glu)
c.1262T>A (p.Val421Glu)
c.869T>A (p.Val290Glu)
c.1265T>A (p.Val422Glu)
c.296T>A (p.Val99Glu)
20g.63415041C>ACA409646692KCNQ2c.1333G>T (p.Val445Leu)
c.1387G>T (p.Val463Leu)
c.784G>T (p.Val262Leu)
c.1297G>T (p.Val433Leu)
c.955G>T (p.Val319Leu)
c.1303G>T (p.Val435Leu)
c.1267G>T (p.Val423Leu)
c.447G>T
c.1357G>T (p.Val453Leu)
c.1261G>T (p.Val421Leu)
c.868G>T (p.Val290Leu)
c.1264G>T (p.Val422Leu)
c.295G>T (p.Val99Leu)
20g.63415041C=CA2374778823KCNQ2c.1333G= (p.Val445=)
c.1387G= (p.Val463=)
c.784G= (p.Val262=)
c.1297G= (p.Val433=)
c.955G= (p.Val319=)
c.1303G= (p.Val435=)
c.1267G= (p.Val423=)
c.447G=
c.1357G= (p.Val453=)
c.1261G= (p.Val421=)
c.868G= (p.Val290=)
c.1264G= (p.Val422=)
c.295G= (p.Val99=)
20g.63415041C>GCA409646693KCNQ2c.1333G>C (p.Val445Leu)
c.1387G>C (p.Val463Leu)
c.784G>C (p.Val262Leu)
c.1297G>C (p.Val433Leu)
c.955G>C (p.Val319Leu)
c.1303G>C (p.Val435Leu)
c.1267G>C (p.Val423Leu)
c.447G>C
c.1357G>C (p.Val453Leu)
c.1261G>C (p.Val421Leu)
c.868G>C (p.Val290Leu)
c.1264G>C (p.Val422Leu)
c.295G>C (p.Val99Leu)
20g.63415041C>TCA409646694KCNQ2c.1333G>A (p.Val445Met)
c.1387G>A (p.Val463Met)
c.784G>A (p.Val262Met)
c.1297G>A (p.Val433Met)
c.955G>A (p.Val319Met)
c.1303G>A (p.Val435Met)
c.1267G>A (p.Val423Met)
c.447G>A
c.1357G>A (p.Val453Met)
c.1261G>A (p.Val421Met)
c.868G>A (p.Val290Met)
c.1264G>A (p.Val422Met)
c.295G>A (p.Val99Met)
 dbSNP gnomAD v2 gnomAD v4
20g.63415042A>CCA511339753KCNQ2c.1332T>G (p.Thr444=)
c.1386T>G (p.Thr462=)
c.783T>G (p.Thr261=)
c.1296T>G (p.Thr432=)
c.954T>G (p.Thr318=)
c.1302T>G (p.Thr434=)
c.1266T>G (p.Thr422=)
c.446T>G
c.1356T>G (p.Thr452=)
c.1260T>G (p.Thr420=)
c.867T>G (p.Thr289=)
c.1263T>G (p.Thr421=)
c.294T>G (p.Thr98=)
20g.63415042A>GCA511339754KCNQ2c.1332T>C (p.Thr444=)
c.1386T>C (p.Thr462=)
c.783T>C (p.Thr261=)
c.1296T>C (p.Thr432=)
c.954T>C (p.Thr318=)
c.1302T>C (p.Thr434=)
c.1266T>C (p.Thr422=)
c.446T>C
c.1356T>C (p.Thr452=)
c.1260T>C (p.Thr420=)
c.867T>C (p.Thr289=)
c.1263T>C (p.Thr421=)
c.294T>C (p.Thr98=)
20g.63415042A>TCA511339752KCNQ2c.1332T>A (p.Thr444=)
c.1386T>A (p.Thr462=)
c.783T>A (p.Thr261=)
c.1296T>A (p.Thr432=)
c.954T>A (p.Thr318=)
c.1302T>A (p.Thr434=)
c.1266T>A (p.Thr422=)
c.446T>A
c.1356T>A (p.Thr452=)
c.1260T>A (p.Thr420=)
c.867T>A (p.Thr289=)
c.1263T>A (p.Thr421=)
c.294T>A (p.Thr98=)
20g.63415043G>ACA409646695KCNQ2c.1331C>T (p.Thr444Ile)
c.1385C>T (p.Thr462Ile)
c.782C>T (p.Thr261Ile)
c.1295C>T (p.Thr432Ile)
c.953C>T (p.Thr318Ile)
c.1301C>T (p.Thr434Ile)
c.1265C>T (p.Thr422Ile)
c.445C>T
c.1355C>T (p.Thr452Ile)
c.1259C>T (p.Thr420Ile)
c.866C>T (p.Thr289Ile)
c.1262C>T (p.Thr421Ile)
c.293C>T (p.Thr98Ile)
 gnomAD v4
20g.63415043G>CCA409646696KCNQ2c.1331C>G (p.Thr444Ser)
c.1385C>G (p.Thr462Ser)
c.782C>G (p.Thr261Ser)
c.1295C>G (p.Thr432Ser)
c.953C>G (p.Thr318Ser)
c.1301C>G (p.Thr434Ser)
c.1265C>G (p.Thr422Ser)
c.445C>G
c.1355C>G (p.Thr452Ser)
c.1259C>G (p.Thr420Ser)
c.866C>G (p.Thr289Ser)
c.1262C>G (p.Thr421Ser)
c.293C>G (p.Thr98Ser)
20g.63415043G>TCA409646697KCNQ2c.1331C>A (p.Thr444Asn)
c.1385C>A (p.Thr462Asn)
c.782C>A (p.Thr261Asn)
c.1295C>A (p.Thr432Asn)
c.953C>A (p.Thr318Asn)
c.1301C>A (p.Thr434Asn)
c.1265C>A (p.Thr422Asn)
c.445C>A
c.1355C>A (p.Thr452Asn)
c.1259C>A (p.Thr420Asn)
c.866C>A (p.Thr289Asn)
c.1262C>A (p.Thr421Asn)
c.293C>A (p.Thr98Asn)
 gnomAD v4
20g.63415044T>ACA409646698KCNQ2c.1330A>T (p.Thr444Ser)
c.1384A>T (p.Thr462Ser)
c.781A>T (p.Thr261Ser)
c.1294A>T (p.Thr432Ser)
c.952A>T (p.Thr318Ser)
c.1300A>T (p.Thr434Ser)
c.1264A>T (p.Thr422Ser)
c.444A>T
c.1354A>T (p.Thr452Ser)
c.1258A>T (p.Thr420Ser)
c.865A>T (p.Thr289Ser)
c.1261A>T (p.Thr421Ser)
c.292A>T (p.Thr98Ser)
20g.63415044T>CCA409646699KCNQ2c.1330A>G (p.Thr444Ala)
c.1384A>G (p.Thr462Ala)
c.781A>G (p.Thr261Ala)
c.1294A>G (p.Thr432Ala)
c.952A>G (p.Thr318Ala)
c.1300A>G (p.Thr434Ala)
c.1264A>G (p.Thr422Ala)
c.444A>G
c.1354A>G (p.Thr452Ala)
c.1258A>G (p.Thr420Ala)
c.865A>G (p.Thr289Ala)
c.1261A>G (p.Thr421Ala)
c.292A>G (p.Thr98Ala)
20g.63415044T>GCA409646700KCNQ2c.1330A>C (p.Thr444Pro)
c.1384A>C (p.Thr462Pro)
c.781A>C (p.Thr261Pro)
c.1294A>C (p.Thr432Pro)
c.952A>C (p.Thr318Pro)
c.1300A>C (p.Thr434Pro)
c.1264A>C (p.Thr422Pro)
c.444A>C
c.1354A>C (p.Thr452Pro)
c.1258A>C (p.Thr420Pro)
c.865A>C (p.Thr289Pro)
c.1261A>C (p.Thr421Pro)
c.292A>C (p.Thr98Pro)
20g.63415045C>ACA409646702KCNQ2c.1329G>T (p.Gln443His)
c.1383G>T (p.Gln461His)
c.780G>T (p.Gln260His)
c.1293G>T (p.Gln431His)
c.951G>T (p.Gln317His)
c.1299G>T (p.Gln433His)
c.1263G>T (p.Gln421His)
c.443G>T
c.1353G>T (p.Gln451His)
c.1257G>T (p.Gln419His)
c.864G>T (p.Gln288His)
c.1260G>T (p.Gln420His)
c.291G>T (p.Gln97His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415045C=CA2374778824KCNQ2c.1329G= (p.Gln443=)
c.1383G= (p.Gln461=)
c.780G= (p.Gln260=)
c.1293G= (p.Gln431=)
c.951G= (p.Gln317=)
c.1299G= (p.Gln433=)
c.1263G= (p.Gln421=)
c.443G=
c.1353G= (p.Gln451=)
c.1257G= (p.Gln419=)
c.864G= (p.Gln288=)
c.1260G= (p.Gln420=)
c.291G= (p.Gln97=)
20g.63415045C>GCA409646701KCNQ2c.1329G>C (p.Gln443His)
c.1383G>C (p.Gln461His)
c.780G>C (p.Gln260His)
c.1293G>C (p.Gln431His)
c.951G>C (p.Gln317His)
c.1299G>C (p.Gln433His)
c.1263G>C (p.Gln421His)
c.443G>C
c.1353G>C (p.Gln451His)
c.1257G>C (p.Gln419His)
c.864G>C (p.Gln288His)
c.1260G>C (p.Gln420His)
c.291G>C (p.Gln97His)
20g.63415045C>TCA511339758KCNQ2c.1329G>A (p.Gln443=)
c.1383G>A (p.Gln461=)
c.780G>A (p.Gln260=)
c.1293G>A (p.Gln431=)
c.951G>A (p.Gln317=)
c.1299G>A (p.Gln433=)
c.1263G>A (p.Gln421=)
c.443G>A
c.1353G>A (p.Gln451=)
c.1257G>A (p.Gln419=)
c.864G>A (p.Gln288=)
c.1260G>A (p.Gln420=)
c.291G>A (p.Gln97=)
20g.63415046T>ACA409646703KCNQ2c.1328A>T (p.Gln443Leu)
c.1382A>T (p.Gln461Leu)
c.779A>T (p.Gln260Leu)
c.1292A>T (p.Gln431Leu)
c.950A>T (p.Gln317Leu)
c.1298A>T (p.Gln433Leu)
c.1262A>T (p.Gln421Leu)
c.442A>T
c.1352A>T (p.Gln451Leu)
c.1256A>T (p.Gln419Leu)
c.863A>T (p.Gln288Leu)
c.1259A>T (p.Gln420Leu)
c.290A>T (p.Gln97Leu)
20g.63415046T>CCA409646704KCNQ2c.1328A>G (p.Gln443Arg)
c.1382A>G (p.Gln461Arg)
c.779A>G (p.Gln260Arg)
c.1292A>G (p.Gln431Arg)
c.950A>G (p.Gln317Arg)
c.1298A>G (p.Gln433Arg)
c.1262A>G (p.Gln421Arg)
c.442A>G
c.1352A>G (p.Gln451Arg)
c.1256A>G (p.Gln419Arg)
c.863A>G (p.Gln288Arg)
c.1259A>G (p.Gln420Arg)
c.290A>G (p.Gln97Arg)
20g.63415046T>GCA10654790KCNQ2c.1328A>C (p.Gln443Pro)
c.1382A>C (p.Gln461Pro)
c.779A>C (p.Gln260Pro)
c.1292A>C (p.Gln431Pro)
c.950A>C (p.Gln317Pro)
c.1298A>C (p.Gln433Pro)
c.1262A>C (p.Gln421Pro)
c.442A>C
c.1352A>C (p.Gln451Pro)
c.1256A>C (p.Gln419Pro)
c.863A>C (p.Gln288Pro)
c.1259A>C (p.Gln420Pro)
c.290A>C (p.Gln97Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63415046T=CA2374778825KCNQ2c.1328A= (p.Gln443=)
c.1382A= (p.Gln461=)
c.779A= (p.Gln260=)
c.1292A= (p.Gln431=)
c.950A= (p.Gln317=)
c.1298A= (p.Gln433=)
c.1262A= (p.Gln421=)
c.442A=
c.1352A= (p.Gln451=)
c.1256A= (p.Gln419=)
c.863A= (p.Gln288=)
c.1259A= (p.Gln420=)
c.290A= (p.Gln97=)
20g.63415047G>ACA317431068KCNQ2c.1327C>T (p.Gln443Ter)
c.1381C>T (p.Gln461Ter)
c.778C>T (p.Gln260Ter)
c.1291C>T (p.Gln431Ter)
c.949C>T (p.Gln317Ter)
c.1297C>T (p.Gln433Ter)
c.1261C>T (p.Gln421Ter)
c.441C>T
c.1351C>T (p.Gln451Ter)
c.1255C>T (p.Gln419Ter)
c.862C>T (p.Gln288Ter)
c.1258C>T (p.Gln420Ter)
c.289C>T (p.Gln97Ter)
 ClinVar dbSNP
20g.63415047G>CCA409646705KCNQ2c.1327C>G (p.Gln443Glu)
c.1381C>G (p.Gln461Glu)
c.778C>G (p.Gln260Glu)
c.1291C>G (p.Gln431Glu)
c.949C>G (p.Gln317Glu)
c.1297C>G (p.Gln433Glu)
c.1261C>G (p.Gln421Glu)
c.441C>G
c.1351C>G (p.Gln451Glu)
c.1255C>G (p.Gln419Glu)
c.862C>G (p.Gln288Glu)
c.1258C>G (p.Gln420Glu)
c.289C>G (p.Gln97Glu)
20g.63415047G=CA2374778826KCNQ2c.1327C= (p.Gln443=)
c.1381C= (p.Gln461=)
c.778C= (p.Gln260=)
c.1291C= (p.Gln431=)
c.949C= (p.Gln317=)
c.1297C= (p.Gln433=)
c.1261C= (p.Gln421=)
c.441C=
c.1351C= (p.Gln451=)
c.1255C= (p.Gln419=)
c.862C= (p.Gln288=)
c.1258C= (p.Gln420=)
c.289C= (p.Gln97=)
20g.63415047G>TCA409646706KCNQ2c.1327C>A (p.Gln443Lys)
c.1381C>A (p.Gln461Lys)
c.778C>A (p.Gln260Lys)
c.1291C>A (p.Gln431Lys)
c.949C>A (p.Gln317Lys)
c.1297C>A (p.Gln433Lys)
c.1261C>A (p.Gln421Lys)
c.441C>A
c.1351C>A (p.Gln451Lys)
c.1255C>A (p.Gln419Lys)
c.862C>A (p.Gln288Lys)
c.1258C>A (p.Gln420Lys)
c.289C>A (p.Gln97Lys)
20g.63415048G>ACA511339762KCNQ2c.1326C>T (p.Ala442=)
c.1380C>T (p.Ala460=)
c.777C>T (p.Ala259=)
c.1290C>T (p.Ala430=)
c.948C>T (p.Ala316=)
c.1296C>T (p.Ala432=)
c.1260C>T (p.Ala420=)
c.440C>T
c.1350C>T (p.Ala450=)
c.1254C>T (p.Ala418=)
c.861C>T (p.Ala287=)
c.1257C>T (p.Ala419=)
c.288C>T (p.Ala96=)
20g.63415048G>CCA511339763KCNQ2c.1326C>G (p.Ala442=)
c.1380C>G (p.Ala460=)
c.777C>G (p.Ala259=)
c.1290C>G (p.Ala430=)
c.948C>G (p.Ala316=)
c.1296C>G (p.Ala432=)
c.1260C>G (p.Ala420=)
c.440C>G
c.1350C>G (p.Ala450=)
c.1254C>G (p.Ala418=)
c.861C>G (p.Ala287=)
c.1257C>G (p.Ala419=)
c.288C>G (p.Ala96=)
 gnomAD v4
20g.63415048G>TCA511339764KCNQ2c.1326C>A (p.Ala442=)
c.1380C>A (p.Ala460=)
c.777C>A (p.Ala259=)
c.1290C>A (p.Ala430=)
c.948C>A (p.Ala316=)
c.1296C>A (p.Ala432=)
c.1260C>A (p.Ala420=)
c.440C>A
c.1350C>A (p.Ala450=)
c.1254C>A (p.Ala418=)
c.861C>A (p.Ala287=)
c.1257C>A (p.Ala419=)
c.288C>A (p.Ala96=)
20g.63415049G>ACA409646709KCNQ2c.1325C>T (p.Ala442Val)
c.1379C>T (p.Ala460Val)
c.776C>T (p.Ala259Val)
c.1289C>T (p.Ala430Val)
c.947C>T (p.Ala316Val)
c.1295C>T (p.Ala432Val)
c.1259C>T (p.Ala420Val)
c.439C>T
c.1349C>T (p.Ala450Val)
c.1253C>T (p.Ala418Val)
c.860C>T (p.Ala287Val)
c.1256C>T (p.Ala419Val)
c.287C>T (p.Ala96Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63415049G>CCA409646707KCNQ2c.1325C>G (p.Ala442Gly)
c.1379C>G (p.Ala460Gly)
c.776C>G (p.Ala259Gly)
c.1289C>G (p.Ala430Gly)
c.947C>G (p.Ala316Gly)
c.1295C>G (p.Ala432Gly)
c.1259C>G (p.Ala420Gly)
c.439C>G
c.1349C>G (p.Ala450Gly)
c.1253C>G (p.Ala418Gly)
c.860C>G (p.Ala287Gly)
c.1256C>G (p.Ala419Gly)
c.287C>G (p.Ala96Gly)
20g.63415049G=CA2374778827KCNQ2c.1325C= (p.Ala442=)
c.1379C= (p.Ala460=)
c.776C= (p.Ala259=)
c.1289C= (p.Ala430=)
c.947C= (p.Ala316=)
c.1295C= (p.Ala432=)
c.1259C= (p.Ala420=)
c.439C=
c.1349C= (p.Ala450=)
c.1253C= (p.Ala418=)
c.860C= (p.Ala287=)
c.1256C= (p.Ala419=)
c.287C= (p.Ala96=)
20g.63415049G>TCA409646708KCNQ2c.1325C>A (p.Ala442Asp)
c.1379C>A (p.Ala460Asp)
c.776C>A (p.Ala259Asp)
c.1289C>A (p.Ala430Asp)
c.947C>A (p.Ala316Asp)
c.1295C>A (p.Ala432Asp)
c.1259C>A (p.Ala420Asp)
c.439C>A
c.1349C>A (p.Ala450Asp)
c.1253C>A (p.Ala418Asp)
c.860C>A (p.Ala287Asp)
c.1256C>A (p.Ala419Asp)
c.287C>A (p.Ala96Asp)
 gnomAD v4
20g.63415050C>ACA409646710KCNQ2c.1324G>T (p.Ala442Ser)
c.1378G>T (p.Ala460Ser)
c.775G>T (p.Ala259Ser)
c.1288G>T (p.Ala430Ser)
c.946G>T (p.Ala316Ser)
c.1294G>T (p.Ala432Ser)
c.1258G>T (p.Ala420Ser)
c.438G>T
c.1348G>T (p.Ala450Ser)
c.1252G>T (p.Ala418Ser)
c.859G>T (p.Ala287Ser)
c.1255G>T (p.Ala419Ser)
c.286G>T (p.Ala96Ser)
20g.63415050C=CA2374778828KCNQ2c.1324G= (p.Ala442=)
c.1378G= (p.Ala460=)
c.775G= (p.Ala259=)
c.1288G= (p.Ala430=)
c.946G= (p.Ala316=)
c.1294G= (p.Ala432=)
c.1258G= (p.Ala420=)
c.438G=
c.1348G= (p.Ala450=)
c.1252G= (p.Ala418=)
c.859G= (p.Ala287=)
c.1255G= (p.Ala419=)
c.286G= (p.Ala96=)
20g.63415050C>GCA409646711KCNQ2c.1324G>C (p.Ala442Pro)
c.1378G>C (p.Ala460Pro)
c.775G>C (p.Ala259Pro)
c.1288G>C (p.Ala430Pro)
c.946G>C (p.Ala316Pro)
c.1294G>C (p.Ala432Pro)
c.1258G>C (p.Ala420Pro)
c.438G>C
c.1348G>C (p.Ala450Pro)
c.1252G>C (p.Ala418Pro)
c.859G>C (p.Ala287Pro)
c.1255G>C (p.Ala419Pro)
c.286G>C (p.Ala96Pro)
20g.63415050C>TCA409646712KCNQ2c.1324G>A (p.Ala442Thr)
c.1378G>A (p.Ala460Thr)
c.775G>A (p.Ala259Thr)
c.1288G>A (p.Ala430Thr)
c.946G>A (p.Ala316Thr)
c.1294G>A (p.Ala432Thr)
c.1258G>A (p.Ala420Thr)
c.438G>A
c.1348G>A (p.Ala450Thr)
c.1252G>A (p.Ala418Thr)
c.859G>A (p.Ala287Thr)
c.1255G>A (p.Ala419Thr)
c.286G>A (p.Ala96Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415051C>ACA409646713KCNQ2c.1323G>T (p.Gln441His)
c.1377G>T (p.Gln459His)
c.774G>T (p.Gln258His)
c.1287G>T (p.Gln429His)
c.945G>T (p.Gln315His)
c.1293G>T (p.Gln431His)
c.1257G>T (p.Gln419His)
c.437G>T
c.1347G>T (p.Gln449His)
c.1251G>T (p.Gln417His)
c.858G>T (p.Gln286His)
c.1254G>T (p.Gln418His)
c.285G>T (p.Gln95His)
20g.63415051C>GCA409646714KCNQ2c.1323G>C (p.Gln441His)
c.1377G>C (p.Gln459His)
c.774G>C (p.Gln258His)
c.1287G>C (p.Gln429His)
c.945G>C (p.Gln315His)
c.1293G>C (p.Gln431His)
c.1257G>C (p.Gln419His)
c.437G>C
c.1347G>C (p.Gln449His)
c.1251G>C (p.Gln417His)
c.858G>C (p.Gln286His)
c.1254G>C (p.Gln418His)
c.285G>C (p.Gln95His)
20g.63415051C>TCA511339768KCNQ2c.1323G>A (p.Gln441=)
c.1377G>A (p.Gln459=)
c.774G>A (p.Gln258=)
c.1287G>A (p.Gln429=)
c.945G>A (p.Gln315=)
c.1293G>A (p.Gln431=)
c.1257G>A (p.Gln419=)
c.437G>A
c.1347G>A (p.Gln449=)
c.1251G>A (p.Gln417=)
c.858G>A (p.Gln286=)
c.1254G>A (p.Gln418=)
c.285G>A (p.Gln95=)
 gnomAD v4
20g.63415052T>ACA409646717KCNQ2c.1322A>T (p.Gln441Leu)
c.1376A>T (p.Gln459Leu)
c.773A>T (p.Gln258Leu)
c.1286A>T (p.Gln429Leu)
c.944A>T (p.Gln315Leu)
c.1292A>T (p.Gln431Leu)
c.1256A>T (p.Gln419Leu)
c.436A>T
c.1346A>T (p.Gln449Leu)
c.1250A>T (p.Gln417Leu)
c.857A>T (p.Gln286Leu)
c.1253A>T (p.Gln418Leu)
c.284A>T (p.Gln95Leu)
20g.63415052T>CCA409646715KCNQ2c.1322A>G (p.Gln441Arg)
c.1376A>G (p.Gln459Arg)
c.773A>G (p.Gln258Arg)
c.1286A>G (p.Gln429Arg)
c.944A>G (p.Gln315Arg)
c.1292A>G (p.Gln431Arg)
c.1256A>G (p.Gln419Arg)
c.436A>G
c.1346A>G (p.Gln449Arg)
c.1250A>G (p.Gln417Arg)
c.857A>G (p.Gln286Arg)
c.1253A>G (p.Gln418Arg)
c.284A>G (p.Gln95Arg)
 gnomAD v4
20g.63415052T>GCA409646716KCNQ2c.1322A>C (p.Gln441Pro)
c.1376A>C (p.Gln459Pro)
c.773A>C (p.Gln258Pro)
c.1286A>C (p.Gln429Pro)
c.944A>C (p.Gln315Pro)
c.1292A>C (p.Gln431Pro)
c.1256A>C (p.Gln419Pro)
c.436A>C
c.1346A>C (p.Gln449Pro)
c.1250A>C (p.Gln417Pro)
c.857A>C (p.Gln286Pro)
c.1253A>C (p.Gln418Pro)
c.284A>C (p.Gln95Pro)
20g.63415053G>ACA409646718KCNQ2c.1321C>T (p.Gln441Ter)
c.1375C>T (p.Gln459Ter)
c.772C>T (p.Gln258Ter)
c.1285C>T (p.Gln429Ter)
c.943C>T (p.Gln315Ter)
c.1291C>T (p.Gln431Ter)
c.1255C>T (p.Gln419Ter)
c.435C>T
c.1345C>T (p.Gln449Ter)
c.1249C>T (p.Gln417Ter)
c.856C>T (p.Gln286Ter)
c.1252C>T (p.Gln418Ter)
c.283C>T (p.Gln95Ter)
 ClinVar dbSNP
20g.63415053G>CCA409646719KCNQ2c.1321C>G (p.Gln441Glu)
c.1375C>G (p.Gln459Glu)
c.772C>G (p.Gln258Glu)
c.1285C>G (p.Gln429Glu)
c.943C>G (p.Gln315Glu)
c.1291C>G (p.Gln431Glu)
c.1255C>G (p.Gln419Glu)
c.435C>G
c.1345C>G (p.Gln449Glu)
c.1249C>G (p.Gln417Glu)
c.856C>G (p.Gln286Glu)
c.1252C>G (p.Gln418Glu)
c.283C>G (p.Gln95Glu)
20g.63415053G>TCA409646720KCNQ2c.1321C>A (p.Gln441Lys)
c.1375C>A (p.Gln459Lys)
c.772C>A (p.Gln258Lys)
c.1285C>A (p.Gln429Lys)
c.943C>A (p.Gln315Lys)
c.1291C>A (p.Gln431Lys)
c.1255C>A (p.Gln419Lys)
c.435C>A
c.1345C>A (p.Gln449Lys)
c.1249C>A (p.Gln417Lys)
c.856C>A (p.Gln286Lys)
c.1252C>A (p.Gln418Lys)
c.283C>A (p.Gln95Lys)
 gnomAD v4
20g.63415054delCA2695230084KCNQ2c.1320del (p.Gln441ArgfsTer5)
c.1374del (p.Gln459ArgfsTer5)
c.771del (p.Gln258ArgfsTer5)
c.1284del (p.Gln429ArgfsTer5)
c.942del (p.Gln315ArgfsTer5)
c.1290del (p.Gln431ArgfsTer5)
c.1254del (p.Gln419ArgfsTer5)
c.434del
c.1344del (p.Gln449ArgfsTer5)
c.1248del (p.Gln417ArgfsTer5)
c.855del (p.Gln286ArgfsTer5)
c.1251del (p.Gln418ArgfsTer5)
c.282del (p.Gln95ArgfsTer5)
20g.63415054C>ACA511339769KCNQ2c.1320G>T (p.Pro440=)
c.1374G>T (p.Pro458=)
c.771G>T (p.Pro257=)
c.1284G>T (p.Pro428=)
c.942G>T (p.Pro314=)
c.1290G>T (p.Pro430=)
c.1254G>T (p.Pro418=)
c.434G>T
c.1344G>T (p.Pro448=)
c.1248G>T (p.Pro416=)
c.855G>T (p.Pro285=)
c.1251G>T (p.Pro417=)
c.282G>T (p.Pro94=)
20g.63415054C=CA2374778829KCNQ2c.1320G= (p.Pro440=)
c.1374G= (p.Pro458=)
c.771G= (p.Pro257=)
c.1284G= (p.Pro428=)
c.942G= (p.Pro314=)
c.1290G= (p.Pro430=)
c.1254G= (p.Pro418=)
c.434G=
c.1344G= (p.Pro448=)
c.1248G= (p.Pro416=)
c.855G= (p.Pro285=)
c.1251G= (p.Pro417=)
c.282G= (p.Pro94=)
20g.63415054C>GCA511339770KCNQ2c.1320G>C (p.Pro440=)
c.1374G>C (p.Pro458=)
c.771G>C (p.Pro257=)
c.1284G>C (p.Pro428=)
c.942G>C (p.Pro314=)
c.1290G>C (p.Pro430=)
c.1254G>C (p.Pro418=)
c.434G>C
c.1344G>C (p.Pro448=)
c.1248G>C (p.Pro416=)
c.855G>C (p.Pro285=)
c.1251G>C (p.Pro417=)
c.282G>C (p.Pro94=)
 dbSNP
20g.63415054C>TCA9958463KCNQ2c.1320G>A (p.Pro440=)
c.1374G>A (p.Pro458=)
c.771G>A (p.Pro257=)
c.1284G>A (p.Pro428=)
c.942G>A (p.Pro314=)
c.1290G>A (p.Pro430=)
c.1254G>A (p.Pro418=)
c.434G>A
c.1344G>A (p.Pro448=)
c.1248G>A (p.Pro416=)
c.855G>A (p.Pro285=)
c.1251G>A (p.Pro417=)
c.282G>A (p.Pro94=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63415054_63415071delinsCGGGGACCCCTTCCCCTTCA2374778830KCNQ2c.1303_1320delinsAAGGGGAAGGGGTCCCCG (p.Lys435=)
c.1357_1374delinsAAGGGGAAGGGGTCCCCG (p.Lys453=)
c.754_771delinsAAGGGGAAGGGGTCCCCG (p.Lys252=)
c.1267_1284delinsAAGGGGAAGGGGTCCCCG (p.Lys423=)
c.925_942delinsAAGGGGAAGGGGTCCCCG (p.Lys309=)
c.1273_1290delinsAAGGGGAAGGGGTCCCCG (p.Lys425=)
c.1237_1254delinsAAGGGGAAGGGGTCCCCG (p.Lys413=)
c.417_434delinsAAGGGGAAGGGGTCCCCG
c.1327_1344delinsAAGGGGAAGGGGTCCCCG (p.Lys443=)
c.1231_1248delinsAAGGGGAAGGGGTCCCCG (p.Lys411=)
c.838_855delinsAAGGGGAAGGGGTCCCCG (p.Lys280=)
c.1234_1251delinsAAGGGGAAGGGGTCCCCG (p.Lys412=)
c.265_282delinsAAGGGGAAGGGGTCCCCG (p.Lys89=)
20g.63415055G>ACA409646721KCNQ2c.1319C>T (p.Pro440Leu)
c.1373C>T (p.Pro458Leu)
c.770C>T (p.Pro257Leu)
c.1283C>T (p.Pro428Leu)
c.941C>T (p.Pro314Leu)
c.1289C>T (p.Pro430Leu)
c.1253C>T (p.Pro418Leu)
c.433C>T
c.1343C>T (p.Pro448Leu)
c.1247C>T (p.Pro416Leu)
c.854C>T (p.Pro285Leu)
c.1250C>T (p.Pro417Leu)
c.281C>T (p.Pro94Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415055G>CCA409646722KCNQ2c.1319C>G (p.Pro440Arg)
c.1373C>G (p.Pro458Arg)
c.770C>G (p.Pro257Arg)
c.1283C>G (p.Pro428Arg)
c.941C>G (p.Pro314Arg)
c.1289C>G (p.Pro430Arg)
c.1253C>G (p.Pro418Arg)
c.433C>G
c.1343C>G (p.Pro448Arg)
c.1247C>G (p.Pro416Arg)
c.854C>G (p.Pro285Arg)
c.1250C>G (p.Pro417Arg)
c.281C>G (p.Pro94Arg)
20g.63415055G=CA2374778831KCNQ2c.1319C= (p.Pro440=)
c.1373C= (p.Pro458=)
c.770C= (p.Pro257=)
c.1283C= (p.Pro428=)
c.941C= (p.Pro314=)
c.1289C= (p.Pro430=)
c.1253C= (p.Pro418=)
c.433C=
c.1343C= (p.Pro448=)
c.1247C= (p.Pro416=)
c.854C= (p.Pro285=)
c.1250C= (p.Pro417=)
c.281C= (p.Pro94=)
20g.63415055G>TCA409646723KCNQ2c.1319C>A (p.Pro440Gln)
c.1373C>A (p.Pro458Gln)
c.770C>A (p.Pro257Gln)
c.1283C>A (p.Pro428Gln)
c.941C>A (p.Pro314Gln)
c.1289C>A (p.Pro430Gln)
c.1253C>A (p.Pro418Gln)
c.433C>A
c.1343C>A (p.Pro448Gln)
c.1247C>A (p.Pro416Gln)
c.854C>A (p.Pro285Gln)
c.1250C>A (p.Pro417Gln)
c.281C>A (p.Pro94Gln)
 gnomAD v4
20g.63415058delCA2653800660KCNQ2c.1319del (p.Pro440ArgfsTer6)
c.1373del (p.Pro458ArgfsTer6)
c.770del (p.Pro257ArgfsTer6)
c.1283del (p.Pro428ArgfsTer6)
c.941del (p.Pro314ArgfsTer6)
c.1289del (p.Pro430ArgfsTer6)
c.1253del (p.Pro418ArgfsTer6)
c.433del
c.1343del (p.Pro448ArgfsTer6)
c.1247del (p.Pro416ArgfsTer6)
c.854del (p.Pro285ArgfsTer6)
c.1250del (p.Pro417ArgfsTer6)
c.281del (p.Pro94ArgfsTer6)
 gnomAD v4
20g.63415057_63415073delCA658658884KCNQ2c.1303_1319del (p.Lys435AlafsTer?)
c.1357_1373del (p.Lys453AlafsTer?)
c.754_770del (p.Lys252AlafsTer?)
c.1267_1283del (p.Lys423AlafsTer?)
c.925_941del (p.Lys309AlafsTer?)
c.1273_1289del (p.Lys425AlafsTer?)
c.1237_1253del (p.Lys413AlafsTer?)
c.417_433del
c.1327_1343del (p.Lys443AlafsTer?)
c.1231_1247del (p.Lys411AlafsTer?)
c.838_854del (p.Lys280AlafsTer?)
c.1234_1250del (p.Lys412AlafsTer?)
c.265_281del (p.Lys89AlafsTer?)
 ClinVar dbSNP
20g.63415056G>ACA409646724KCNQ2c.1318C>T (p.Pro440Ser)
c.1372C>T (p.Pro458Ser)
c.769C>T (p.Pro257Ser)
c.1282C>T (p.Pro428Ser)
c.940C>T (p.Pro314Ser)
c.1288C>T (p.Pro430Ser)
c.1252C>T (p.Pro418Ser)
c.432C>T
c.1342C>T (p.Pro448Ser)
c.1246C>T (p.Pro416Ser)
c.853C>T (p.Pro285Ser)
c.1249C>T (p.Pro417Ser)
c.280C>T (p.Pro94Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415056G>CCA409646725KCNQ2c.1318C>G (p.Pro440Ala)
c.1372C>G (p.Pro458Ala)
c.769C>G (p.Pro257Ala)
c.1282C>G (p.Pro428Ala)
c.940C>G (p.Pro314Ala)
c.1288C>G (p.Pro430Ala)
c.1252C>G (p.Pro418Ala)
c.432C>G
c.1342C>G (p.Pro448Ala)
c.1246C>G (p.Pro416Ala)
c.853C>G (p.Pro285Ala)
c.1249C>G (p.Pro417Ala)
c.280C>G (p.Pro94Ala)
20g.63415056G=CA2374778832KCNQ2c.1318C= (p.Pro440=)
c.1372C= (p.Pro458=)
c.769C= (p.Pro257=)
c.1282C= (p.Pro428=)
c.940C= (p.Pro314=)
c.1288C= (p.Pro430=)
c.1252C= (p.Pro418=)
c.432C=
c.1342C= (p.Pro448=)
c.1246C= (p.Pro416=)
c.853C= (p.Pro285=)
c.1249C= (p.Pro417=)
c.280C= (p.Pro94=)
20g.63415056G>TCA409646726KCNQ2c.1318C>A (p.Pro440Thr)
c.1372C>A (p.Pro458Thr)
c.769C>A (p.Pro257Thr)
c.1282C>A (p.Pro428Thr)
c.940C>A (p.Pro314Thr)
c.1288C>A (p.Pro430Thr)
c.1252C>A (p.Pro418Thr)
c.432C>A
c.1342C>A (p.Pro448Thr)
c.1246C>A (p.Pro416Thr)
c.853C>A (p.Pro285Thr)
c.1249C>A (p.Pro417Thr)
c.280C>A (p.Pro94Thr)
 gnomAD v4
20g.63415057G>ACA511339776KCNQ2c.1317C>T (p.Ser439=)
c.1371C>T (p.Ser457=)
c.768C>T (p.Ser256=)
c.1281C>T (p.Ser427=)
c.939C>T (p.Ser313=)
c.1287C>T (p.Ser429=)
c.1251C>T (p.Ser417=)
c.431C>T
c.1341C>T (p.Ser447=)
c.1245C>T (p.Ser415=)
c.852C>T (p.Ser284=)
c.1248C>T (p.Ser416=)
c.279C>T (p.Ser93=)
 dbSNP gnomAD v2 gnomAD v4
20g.63415057G>CCA511339775KCNQ2c.1317C>G (p.Ser439=)
c.1371C>G (p.Ser457=)
c.768C>G (p.Ser256=)
c.1281C>G (p.Ser427=)
c.939C>G (p.Ser313=)
c.1287C>G (p.Ser429=)
c.1251C>G (p.Ser417=)
c.431C>G
c.1341C>G (p.Ser447=)
c.1245C>G (p.Ser415=)
c.852C>G (p.Ser284=)
c.1248C>G (p.Ser416=)
c.279C>G (p.Ser93=)
20g.63415057G=CA2374778833KCNQ2c.1317C= (p.Ser439=)
c.1371C= (p.Ser457=)
c.768C= (p.Ser256=)
c.1281C= (p.Ser427=)
c.939C= (p.Ser313=)
c.1287C= (p.Ser429=)
c.1251C= (p.Ser417=)
c.431C=
c.1341C= (p.Ser447=)
c.1245C= (p.Ser415=)
c.852C= (p.Ser284=)
c.1248C= (p.Ser416=)
c.279C= (p.Ser93=)
20g.63415057G>TCA511339774KCNQ2c.1317C>A (p.Ser439=)
c.1371C>A (p.Ser457=)
c.768C>A (p.Ser256=)
c.1281C>A (p.Ser427=)
c.939C>A (p.Ser313=)
c.1287C>A (p.Ser429=)
c.1251C>A (p.Ser417=)
c.431C>A
c.1341C>A (p.Ser447=)
c.1245C>A (p.Ser415=)
c.852C>A (p.Ser284=)
c.1248C>A (p.Ser416=)
c.279C>A (p.Ser93=)
 gnomAD v4
20g.63415058G>ACA409646727KCNQ2c.1316C>T (p.Ser439Phe)
c.1370C>T (p.Ser457Phe)
c.767C>T (p.Ser256Phe)
c.1280C>T (p.Ser427Phe)
c.938C>T (p.Ser313Phe)
c.1286C>T (p.Ser429Phe)
c.1250C>T (p.Ser417Phe)
c.430C>T
c.1340C>T (p.Ser447Phe)
c.1244C>T (p.Ser415Phe)
c.851C>T (p.Ser284Phe)
c.1247C>T (p.Ser416Phe)
c.278C>T (p.Ser93Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415058G>CCA409646728KCNQ2c.1316C>G (p.Ser439Cys)
c.1370C>G (p.Ser457Cys)
c.767C>G (p.Ser256Cys)
c.1280C>G (p.Ser427Cys)
c.938C>G (p.Ser313Cys)
c.1286C>G (p.Ser429Cys)
c.1250C>G (p.Ser417Cys)
c.430C>G
c.1340C>G (p.Ser447Cys)
c.1244C>G (p.Ser415Cys)
c.851C>G (p.Ser284Cys)
c.1247C>G (p.Ser416Cys)
c.278C>G (p.Ser93Cys)
 dbSNP
20g.63415058G=CA2374778834KCNQ2c.1316C= (p.Ser439=)
c.1370C= (p.Ser457=)
c.767C= (p.Ser256=)
c.1280C= (p.Ser427=)
c.938C= (p.Ser313=)
c.1286C= (p.Ser429=)
c.1250C= (p.Ser417=)
c.430C=
c.1340C= (p.Ser447=)
c.1244C= (p.Ser415=)
c.851C= (p.Ser284=)
c.1247C= (p.Ser416=)
c.278C= (p.Ser93=)
20g.63415058G>TCA409646729KCNQ2c.1316C>A (p.Ser439Tyr)
c.1370C>A (p.Ser457Tyr)
c.767C>A (p.Ser256Tyr)
c.1280C>A (p.Ser427Tyr)
c.938C>A (p.Ser313Tyr)
c.1286C>A (p.Ser429Tyr)
c.1250C>A (p.Ser417Tyr)
c.430C>A
c.1340C>A (p.Ser447Tyr)
c.1244C>A (p.Ser415Tyr)
c.851C>A (p.Ser284Tyr)
c.1247C>A (p.Ser416Tyr)
c.278C>A (p.Ser93Tyr)
 gnomAD v4
20g.63415059A=CA2374778835KCNQ2c.1315T= (p.Ser439=)
c.1369T= (p.Ser457=)
c.766T= (p.Ser256=)
c.1279T= (p.Ser427=)
c.937T= (p.Ser313=)
c.1285T= (p.Ser429=)
c.1249T= (p.Ser417=)
c.429T=
c.1339T= (p.Ser447=)
c.1243T= (p.Ser415=)
c.850T= (p.Ser284=)
c.1246T= (p.Ser416=)
c.277T= (p.Ser93=)
20g.63415059A>CCA317431105KCNQ2c.1315T>G (p.Ser439Ala)
c.1369T>G (p.Ser457Ala)
c.766T>G (p.Ser256Ala)
c.1279T>G (p.Ser427Ala)
c.937T>G (p.Ser313Ala)
c.1285T>G (p.Ser429Ala)
c.1249T>G (p.Ser417Ala)
c.429T>G
c.1339T>G (p.Ser447Ala)
c.1243T>G (p.Ser415Ala)
c.850T>G (p.Ser284Ala)
c.1246T>G (p.Ser416Ala)
c.277T>G (p.Ser93Ala)
 dbSNP
20g.63415059A>GCA409646731KCNQ2c.1315T>C (p.Ser439Pro)
c.1369T>C (p.Ser457Pro)
c.766T>C (p.Ser256Pro)
c.1279T>C (p.Ser427Pro)
c.937T>C (p.Ser313Pro)
c.1285T>C (p.Ser429Pro)
c.1249T>C (p.Ser417Pro)
c.429T>C
c.1339T>C (p.Ser447Pro)
c.1243T>C (p.Ser415Pro)
c.850T>C (p.Ser284Pro)
c.1246T>C (p.Ser416Pro)
c.277T>C (p.Ser93Pro)
20g.63415059A>TCA409646730KCNQ2c.1315T>A (p.Ser439Thr)
c.1369T>A (p.Ser457Thr)
c.766T>A (p.Ser256Thr)
c.1279T>A (p.Ser427Thr)
c.937T>A (p.Ser313Thr)
c.1285T>A (p.Ser429Thr)
c.1249T>A (p.Ser417Thr)
c.429T>A
c.1339T>A (p.Ser447Thr)
c.1243T>A (p.Ser415Thr)
c.850T>A (p.Ser284Thr)
c.1246T>A (p.Ser416Thr)
c.277T>A (p.Ser93Thr)
 dbSNP
20g.63415060C>ACA511339781KCNQ2c.1314G>T (p.Gly438=)
c.1368G>T (p.Gly456=)
c.765G>T (p.Gly255=)
c.1278G>T (p.Gly426=)
c.936G>T (p.Gly312=)
c.1284G>T (p.Gly428=)
c.1248G>T (p.Gly416=)
c.428G>T
c.1338G>T (p.Gly446=)
c.1242G>T (p.Gly414=)
c.849G>T (p.Gly283=)
c.1245G>T (p.Gly415=)
c.276G>T (p.Gly92=)
20g.63415060C=CA2374778836KCNQ2c.1314G= (p.Gly438=)
c.1368G= (p.Gly456=)
c.765G= (p.Gly255=)
c.1278G= (p.Gly426=)
c.936G= (p.Gly312=)
c.1284G= (p.Gly428=)
c.1248G= (p.Gly416=)
c.428G=
c.1338G= (p.Gly446=)
c.1242G= (p.Gly414=)
c.849G= (p.Gly283=)
c.1245G= (p.Gly415=)
c.276G= (p.Gly92=)
20g.63415060C>GCA511339782KCNQ2c.1314G>C (p.Gly438=)
c.1368G>C (p.Gly456=)
c.765G>C (p.Gly255=)
c.1278G>C (p.Gly426=)
c.936G>C (p.Gly312=)
c.1284G>C (p.Gly428=)
c.1248G>C (p.Gly416=)
c.428G>C
c.1338G>C (p.Gly446=)
c.1242G>C (p.Gly414=)
c.849G>C (p.Gly283=)
c.1245G>C (p.Gly415=)
c.276G>C (p.Gly92=)
20g.63415060C>TCA9958464KCNQ2c.1314G>A (p.Gly438=)
c.1368G>A (p.Gly456=)
c.765G>A (p.Gly255=)
c.1278G>A (p.Gly426=)
c.936G>A (p.Gly312=)
c.1284G>A (p.Gly428=)
c.1248G>A (p.Gly416=)
c.428G>A
c.1338G>A (p.Gly446=)
c.1242G>A (p.Gly414=)
c.849G>A (p.Gly283=)
c.1245G>A (p.Gly415=)
c.276G>A (p.Gly92=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415063delCA2499225796KCNQ2c.1314del (p.Ser439ProfsTer7)
c.1368del (p.Ser457ProfsTer7)
c.765del (p.Ser256ProfsTer7)
c.1278del (p.Ser427ProfsTer7)
c.936del (p.Ser313ProfsTer7)
c.1284del (p.Ser429ProfsTer7)
c.1248del (p.Ser417ProfsTer7)
c.428del
c.1338del (p.Ser447ProfsTer7)
c.1242del (p.Ser415ProfsTer7)
c.849del (p.Ser284ProfsTer7)
c.1245del (p.Ser416ProfsTer7)
c.276del (p.Ser93ProfsTer7)
 ClinVar dbSNP
20g.63415061C>ACA409646732KCNQ2c.1313G>T (p.Gly438Val)
c.1367G>T (p.Gly456Val)
c.764G>T (p.Gly255Val)
c.1277G>T (p.Gly426Val)
c.935G>T (p.Gly312Val)
c.1283G>T (p.Gly428Val)
c.1247G>T (p.Gly416Val)
c.427G>T
c.1337G>T (p.Gly446Val)
c.1241G>T (p.Gly414Val)
c.848G>T (p.Gly283Val)
c.1244G>T (p.Gly415Val)
c.275G>T (p.Gly92Val)
 gnomAD v4
20g.63415061C=CA2374778837KCNQ2c.1313G= (p.Gly438=)
c.1367G= (p.Gly456=)
c.764G= (p.Gly255=)
c.1277G= (p.Gly426=)
c.935G= (p.Gly312=)
c.1283G= (p.Gly428=)
c.1247G= (p.Gly416=)
c.427G=
c.1337G= (p.Gly446=)
c.1241G= (p.Gly414=)
c.848G= (p.Gly283=)
c.1244G= (p.Gly415=)
c.275G= (p.Gly92=)
20g.63415061C>GCA409646733KCNQ2c.1313G>C (p.Gly438Ala)
c.1367G>C (p.Gly456Ala)
c.764G>C (p.Gly255Ala)
c.1277G>C (p.Gly426Ala)
c.935G>C (p.Gly312Ala)
c.1283G>C (p.Gly428Ala)
c.1247G>C (p.Gly416Ala)
c.427G>C
c.1337G>C (p.Gly446Ala)
c.1241G>C (p.Gly414Ala)
c.848G>C (p.Gly283Ala)
c.1244G>C (p.Gly415Ala)
c.275G>C (p.Gly92Ala)
20g.63415061C>TCA9958465KCNQ2c.1313G>A (p.Gly438Glu)
c.1367G>A (p.Gly456Glu)
c.764G>A (p.Gly255Glu)
c.1277G>A (p.Gly426Glu)
c.935G>A (p.Gly312Glu)
c.1283G>A (p.Gly428Glu)
c.1247G>A (p.Gly416Glu)
c.427G>A
c.1337G>A (p.Gly446Glu)
c.1241G>A (p.Gly414Glu)
c.848G>A (p.Gly283Glu)
c.1244G>A (p.Gly415Glu)
c.275G>A (p.Gly92Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415062C>ACA409646734KCNQ2c.1312G>T (p.Gly438Trp)
c.1366G>T (p.Gly456Trp)
c.763G>T (p.Gly255Trp)
c.1276G>T (p.Gly426Trp)
c.934G>T (p.Gly312Trp)
c.1282G>T (p.Gly428Trp)
c.1246G>T (p.Gly416Trp)
c.426G>T
c.1336G>T (p.Gly446Trp)
c.1240G>T (p.Gly414Trp)
c.847G>T (p.Gly283Trp)
c.1243G>T (p.Gly415Trp)
c.274G>T (p.Gly92Trp)
 dbSNP gnomAD v2 gnomAD v4
20g.63415062C=CA2374778838KCNQ2c.1312G= (p.Gly438=)
c.1366G= (p.Gly456=)
c.763G= (p.Gly255=)
c.1276G= (p.Gly426=)
c.934G= (p.Gly312=)
c.1282G= (p.Gly428=)
c.1246G= (p.Gly416=)
c.426G=
c.1336G= (p.Gly446=)
c.1240G= (p.Gly414=)
c.847G= (p.Gly283=)
c.1243G= (p.Gly415=)
c.274G= (p.Gly92=)
20g.63415062C>GCA409646735KCNQ2c.1312G>C (p.Gly438Arg)
c.1366G>C (p.Gly456Arg)
c.763G>C (p.Gly255Arg)
c.1276G>C (p.Gly426Arg)
c.934G>C (p.Gly312Arg)
c.1282G>C (p.Gly428Arg)
c.1246G>C (p.Gly416Arg)
c.426G>C
c.1336G>C (p.Gly446Arg)
c.1240G>C (p.Gly414Arg)
c.847G>C (p.Gly283Arg)
c.1243G>C (p.Gly415Arg)
c.274G>C (p.Gly92Arg)
20g.63415062C>TCA409646736KCNQ2c.1312G>A (p.Gly438Arg)
c.1366G>A (p.Gly456Arg)
c.763G>A (p.Gly255Arg)
c.1276G>A (p.Gly426Arg)
c.934G>A (p.Gly312Arg)
c.1282G>A (p.Gly428Arg)
c.1246G>A (p.Gly416Arg)
c.426G>A
c.1336G>A (p.Gly446Arg)
c.1240G>A (p.Gly414Arg)
c.847G>A (p.Gly283Arg)
c.1243G>A (p.Gly415Arg)
c.274G>A (p.Gly92Arg)
20g.63415063C>ACA409646737KCNQ2c.1311G>T (p.Lys437Asn)
c.1365G>T (p.Lys455Asn)
c.762G>T (p.Lys254Asn)
c.1275G>T (p.Lys425Asn)
c.933G>T (p.Lys311Asn)
c.1281G>T (p.Lys427Asn)
c.1245G>T (p.Lys415Asn)
c.425G>T
c.1335G>T (p.Lys445Asn)
c.1239G>T (p.Lys413Asn)
c.846G>T (p.Lys282Asn)
c.1242G>T (p.Lys414Asn)
c.273G>T (p.Lys91Asn)
20g.63415063C=CA2374778839KCNQ2c.1311G= (p.Lys437=)
c.1365G= (p.Lys455=)
c.762G= (p.Lys254=)
c.1275G= (p.Lys425=)
c.933G= (p.Lys311=)
c.1281G= (p.Lys427=)
c.1245G= (p.Lys415=)
c.425G=
c.1335G= (p.Lys445=)
c.1239G= (p.Lys413=)
c.846G= (p.Lys282=)
c.1242G= (p.Lys414=)
c.273G= (p.Lys91=)
20g.63415063C>GCA409646738KCNQ2c.1311G>C (p.Lys437Asn)
c.1365G>C (p.Lys455Asn)
c.762G>C (p.Lys254Asn)
c.1275G>C (p.Lys425Asn)
c.933G>C (p.Lys311Asn)
c.1281G>C (p.Lys427Asn)
c.1245G>C (p.Lys415Asn)
c.425G>C
c.1335G>C (p.Lys445Asn)
c.1239G>C (p.Lys413Asn)
c.846G>C (p.Lys282Asn)
c.1242G>C (p.Lys414Asn)
c.273G>C (p.Lys91Asn)
20g.63415063C>TCA317431114KCNQ2c.1311G>A (p.Lys437=)
c.1365G>A (p.Lys455=)
c.762G>A (p.Lys254=)
c.1275G>A (p.Lys425=)
c.933G>A (p.Lys311=)
c.1281G>A (p.Lys427=)
c.1245G>A (p.Lys415=)
c.425G>A
c.1335G>A (p.Lys445=)
c.1239G>A (p.Lys413=)
c.846G>A (p.Lys282=)
c.1242G>A (p.Lys414=)
c.273G>A (p.Lys91=)
 ClinVar dbSNP gnomAD v4
20g.63415064T>ACA409646739KCNQ2c.1310A>T (p.Lys437Met)
c.1364A>T (p.Lys455Met)
c.761A>T (p.Lys254Met)
c.1274A>T (p.Lys425Met)
c.932A>T (p.Lys311Met)
c.1280A>T (p.Lys427Met)
c.1244A>T (p.Lys415Met)
c.424A>T
c.1334A>T (p.Lys445Met)
c.1238A>T (p.Lys413Met)
c.845A>T (p.Lys282Met)
c.1241A>T (p.Lys414Met)
c.272A>T (p.Lys91Met)
20g.63415064T>CCA409646740KCNQ2c.1310A>G (p.Lys437Arg)
c.1364A>G (p.Lys455Arg)
c.761A>G (p.Lys254Arg)
c.1274A>G (p.Lys425Arg)
c.932A>G (p.Lys311Arg)
c.1280A>G (p.Lys427Arg)
c.1244A>G (p.Lys415Arg)
c.424A>G
c.1334A>G (p.Lys445Arg)
c.1238A>G (p.Lys413Arg)
c.845A>G (p.Lys282Arg)
c.1241A>G (p.Lys414Arg)
c.272A>G (p.Lys91Arg)
 ClinVar dbSNP gnomAD v4
20g.63415064T>GCA409646741KCNQ2c.1310A>C (p.Lys437Thr)
c.1364A>C (p.Lys455Thr)
c.761A>C (p.Lys254Thr)
c.1274A>C (p.Lys425Thr)
c.932A>C (p.Lys311Thr)
c.1280A>C (p.Lys427Thr)
c.1244A>C (p.Lys415Thr)
c.424A>C
c.1334A>C (p.Lys445Thr)
c.1238A>C (p.Lys413Thr)
c.845A>C (p.Lys282Thr)
c.1241A>C (p.Lys414Thr)
c.272A>C (p.Lys91Thr)
20g.63415064T=CA2374778840KCNQ2c.1310A= (p.Lys437=)
c.1364A= (p.Lys455=)
c.761A= (p.Lys254=)
c.1274A= (p.Lys425=)
c.932A= (p.Lys311=)
c.1280A= (p.Lys427=)
c.1244A= (p.Lys415=)
c.424A=
c.1334A= (p.Lys445=)
c.1238A= (p.Lys413=)
c.845A= (p.Lys282=)
c.1241A= (p.Lys414=)
c.272A= (p.Lys91=)
20g.63415065T>ACA409646744KCNQ2c.1309A>T (p.Lys437Ter)
c.1363A>T (p.Lys455Ter)
c.760A>T (p.Lys254Ter)
n.100A>T
c.1273A>T (p.Lys425Ter)
c.931A>T (p.Lys311Ter)
c.1279A>T (p.Lys427Ter)
c.1243A>T (p.Lys415Ter)
c.423A>T
c.1333A>T (p.Lys445Ter)
c.1237A>T (p.Lys413Ter)
c.844A>T (p.Lys282Ter)
c.1240A>T (p.Lys414Ter)
c.271A>T (p.Lys91Ter)
20g.63415065T>CCA409646742KCNQ2c.1309A>G (p.Lys437Glu)
c.1363A>G (p.Lys455Glu)
c.760A>G (p.Lys254Glu)
n.100A>G
c.1273A>G (p.Lys425Glu)
c.931A>G (p.Lys311Glu)
c.1279A>G (p.Lys427Glu)
c.1243A>G (p.Lys415Glu)
c.423A>G
c.1333A>G (p.Lys445Glu)
c.1237A>G (p.Lys413Glu)
c.844A>G (p.Lys282Glu)
c.1240A>G (p.Lys414Glu)
c.271A>G (p.Lys91Glu)
 gnomAD v4
20g.63415065T>GCA409646743KCNQ2c.1309A>C (p.Lys437Gln)
c.1363A>C (p.Lys455Gln)
c.760A>C (p.Lys254Gln)
n.100A>C
c.1273A>C (p.Lys425Gln)
c.931A>C (p.Lys311Gln)
c.1279A>C (p.Lys427Gln)
c.1243A>C (p.Lys415Gln)
c.423A>C
c.1333A>C (p.Lys445Gln)
c.1237A>C (p.Lys413Gln)
c.844A>C (p.Lys282Gln)
c.1240A>C (p.Lys414Gln)
c.271A>C (p.Lys91Gln)
20g.63415066C>ACA511339787KCNQ2c.1308G>T (p.Gly436=)
c.1362G>T (p.Gly454=)
c.759G>T (p.Gly253=)
n.99G>T
c.1272G>T (p.Gly424=)
c.930G>T (p.Gly310=)
c.1278G>T (p.Gly426=)
c.1242G>T (p.Gly414=)
c.422G>T
c.1332G>T (p.Gly444=)
c.1236G>T (p.Gly412=)
c.843G>T (p.Gly281=)
c.1239G>T (p.Gly413=)
c.270G>T (p.Gly90=)
 gnomAD v4
20g.63415066C>GCA511339788KCNQ2c.1308G>C (p.Gly436=)
c.1362G>C (p.Gly454=)
c.759G>C (p.Gly253=)
n.99G>C
c.1272G>C (p.Gly424=)
c.930G>C (p.Gly310=)
c.1278G>C (p.Gly426=)
c.1242G>C (p.Gly414=)
c.422G>C
c.1332G>C (p.Gly444=)
c.1236G>C (p.Gly412=)
c.843G>C (p.Gly281=)
c.1239G>C (p.Gly413=)
c.270G>C (p.Gly90=)
 gnomAD v4
20g.63415066C>TCA511339790KCNQ2c.1308G>A (p.Gly436=)
c.1362G>A (p.Gly454=)
c.759G>A (p.Gly253=)
n.99G>A
c.1272G>A (p.Gly424=)
c.930G>A (p.Gly310=)
c.1278G>A (p.Gly426=)
c.1242G>A (p.Gly414=)
c.422G>A
c.1332G>A (p.Gly444=)
c.1236G>A (p.Gly412=)
c.843G>A (p.Gly281=)
c.1239G>A (p.Gly413=)
c.270G>A (p.Gly90=)
20g.63415067C>ACA409646745KCNQ2c.1307G>T (p.Gly436Val)
c.1361G>T (p.Gly454Val)
c.758G>T (p.Gly253Val)
n.98G>T
c.1271G>T (p.Gly424Val)
c.929G>T (p.Gly310Val)
c.1277G>T (p.Gly426Val)
c.1241G>T (p.Gly414Val)
c.421G>T
c.1331G>T (p.Gly444Val)
c.1235G>T (p.Gly412Val)
c.842G>T (p.Gly281Val)
c.1238G>T (p.Gly413Val)
c.269G>T (p.Gly90Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63415067C=CA2374778841KCNQ2c.1307G= (p.Gly436=)
c.1361G= (p.Gly454=)
c.758G= (p.Gly253=)
n.98G=
c.1271G= (p.Gly424=)
c.929G= (p.Gly310=)
c.1277G= (p.Gly426=)
c.1241G= (p.Gly414=)
c.421G=
c.1331G= (p.Gly444=)
c.1235G= (p.Gly412=)
c.842G= (p.Gly281=)
c.1238G= (p.Gly413=)
c.269G= (p.Gly90=)
20g.63415067C>GCA409646746KCNQ2c.1307G>C (p.Gly436Ala)
c.1361G>C (p.Gly454Ala)
c.758G>C (p.Gly253Ala)
n.98G>C
c.1271G>C (p.Gly424Ala)
c.929G>C (p.Gly310Ala)
c.1277G>C (p.Gly426Ala)
c.1241G>C (p.Gly414Ala)
c.421G>C
c.1331G>C (p.Gly444Ala)
c.1235G>C (p.Gly412Ala)
c.842G>C (p.Gly281Ala)
c.1238G>C (p.Gly413Ala)
c.269G>C (p.Gly90Ala)
20g.63415067C>TCA409646747KCNQ2c.1307G>A (p.Gly436Glu)
c.1361G>A (p.Gly454Glu)
c.758G>A (p.Gly253Glu)
n.98G>A
c.1271G>A (p.Gly424Glu)
c.929G>A (p.Gly310Glu)
c.1277G>A (p.Gly426Glu)
c.1241G>A (p.Gly414Glu)
c.421G>A
c.1331G>A (p.Gly444Glu)
c.1235G>A (p.Gly412Glu)
c.842G>A (p.Gly281Glu)
c.1238G>A (p.Gly413Glu)
c.269G>A (p.Gly90Glu)
20g.63415068C>ACA409646748KCNQ2c.1306G>T (p.Gly436Trp)
c.1360G>T (p.Gly454Trp)
c.757G>T (p.Gly253Trp)
n.97G>T
c.1270G>T (p.Gly424Trp)
c.928G>T (p.Gly310Trp)
c.1276G>T (p.Gly426Trp)
c.1240G>T (p.Gly414Trp)
c.420G>T
c.1330G>T (p.Gly444Trp)
c.1234G>T (p.Gly412Trp)
c.841G>T (p.Gly281Trp)
c.1237G>T (p.Gly413Trp)
c.268G>T (p.Gly90Trp)
20g.63415068C>GCA409646749KCNQ2c.1306G>C (p.Gly436Arg)
c.1360G>C (p.Gly454Arg)
c.757G>C (p.Gly253Arg)
n.97G>C
c.1270G>C (p.Gly424Arg)
c.928G>C (p.Gly310Arg)
c.1276G>C (p.Gly426Arg)
c.1240G>C (p.Gly414Arg)
c.420G>C
c.1330G>C (p.Gly444Arg)
c.1234G>C (p.Gly412Arg)
c.841G>C (p.Gly281Arg)
c.1237G>C (p.Gly413Arg)
c.268G>C (p.Gly90Arg)
20g.63415068C>TCA409646750KCNQ2c.1306G>A (p.Gly436Arg)
c.1360G>A (p.Gly454Arg)
c.757G>A (p.Gly253Arg)
n.97G>A
c.1270G>A (p.Gly424Arg)
c.928G>A (p.Gly310Arg)
c.1276G>A (p.Gly426Arg)
c.1240G>A (p.Gly414Arg)
c.420G>A
c.1330G>A (p.Gly444Arg)
c.1234G>A (p.Gly412Arg)
c.841G>A (p.Gly281Arg)
c.1237G>A (p.Gly413Arg)
c.268G>A (p.Gly90Arg)
 gnomAD v4
20g.63415069C>ACA409646751KCNQ2c.1305G>T (p.Lys435Asn)
c.1359G>T (p.Lys453Asn)
c.756G>T (p.Lys252Asn)
n.96G>T
c.1269G>T (p.Lys423Asn)
c.927G>T (p.Lys309Asn)
c.1275G>T (p.Lys425Asn)
c.1239G>T (p.Lys413Asn)
c.419G>T
c.1329G>T (p.Lys443Asn)
c.1233G>T (p.Lys411Asn)
c.840G>T (p.Lys280Asn)
c.1236G>T (p.Lys412Asn)
c.267G>T (p.Lys89Asn)
20g.63415069C>GCA409646752KCNQ2c.1305G>C (p.Lys435Asn)
c.1359G>C (p.Lys453Asn)
c.756G>C (p.Lys252Asn)
n.96G>C
c.1269G>C (p.Lys423Asn)
c.927G>C (p.Lys309Asn)
c.1275G>C (p.Lys425Asn)
c.1239G>C (p.Lys413Asn)
c.419G>C
c.1329G>C (p.Lys443Asn)
c.1233G>C (p.Lys411Asn)
c.840G>C (p.Lys280Asn)
c.1236G>C (p.Lys412Asn)
c.267G>C (p.Lys89Asn)
20g.63415069C>TCA511339791KCNQ2c.1305G>A (p.Lys435=)
c.1359G>A (p.Lys453=)
c.756G>A (p.Lys252=)
n.96G>A
c.1269G>A (p.Lys423=)
c.927G>A (p.Lys309=)
c.1275G>A (p.Lys425=)
c.1239G>A (p.Lys413=)
c.419G>A
c.1329G>A (p.Lys443=)
c.1233G>A (p.Lys411=)
c.840G>A (p.Lys280=)
c.1236G>A (p.Lys412=)
c.267G>A (p.Lys89=)
 COSMIC COSMIC COSMIC
20g.63415070T>ACA409646753KCNQ2c.1304A>T (p.Lys435Met)
c.1358A>T (p.Lys453Met)
c.755A>T (p.Lys252Met)
n.95A>T
c.1268A>T (p.Lys423Met)
c.926A>T (p.Lys309Met)
c.1274A>T (p.Lys425Met)
c.1238A>T (p.Lys413Met)
c.418A>T
c.1328A>T (p.Lys443Met)
c.1232A>T (p.Lys411Met)
c.839A>T (p.Lys280Met)
c.1235A>T (p.Lys412Met)
c.266A>T (p.Lys89Met)
20g.63415070T>CCA409646754KCNQ2c.1304A>G (p.Lys435Arg)
c.1358A>G (p.Lys453Arg)
c.755A>G (p.Lys252Arg)
n.95A>G
c.1268A>G (p.Lys423Arg)
c.926A>G (p.Lys309Arg)
c.1274A>G (p.Lys425Arg)
c.1238A>G (p.Lys413Arg)
c.418A>G
c.1328A>G (p.Lys443Arg)
c.1232A>G (p.Lys411Arg)
c.839A>G (p.Lys280Arg)
c.1235A>G (p.Lys412Arg)
c.266A>G (p.Lys89Arg)
20g.63415070T>GCA409646755KCNQ2c.1304A>C (p.Lys435Thr)
c.1358A>C (p.Lys453Thr)
c.755A>C (p.Lys252Thr)
n.95A>C
c.1268A>C (p.Lys423Thr)
c.926A>C (p.Lys309Thr)
c.1274A>C (p.Lys425Thr)
c.1238A>C (p.Lys413Thr)
c.418A>C
c.1328A>C (p.Lys443Thr)
c.1232A>C (p.Lys411Thr)
c.839A>C (p.Lys280Thr)
c.1235A>C (p.Lys412Thr)
c.266A>C (p.Lys89Thr)
 gnomAD v4
20g.63415071T>ACA409646758KCNQ2c.1303A>T (p.Lys435Ter)
c.1357A>T (p.Lys453Ter)
c.754A>T (p.Lys252Ter)
n.94A>T
c.1267A>T (p.Lys423Ter)
c.925A>T (p.Lys309Ter)
c.1273A>T (p.Lys425Ter)
c.1237A>T (p.Lys413Ter)
c.417A>T
c.1327A>T (p.Lys443Ter)
c.1231A>T (p.Lys411Ter)
c.838A>T (p.Lys280Ter)
c.1234A>T (p.Lys412Ter)
c.265A>T (p.Lys89Ter)
20g.63415071T>CCA409646757KCNQ2c.1303A>G (p.Lys435Glu)
c.1357A>G (p.Lys453Glu)
c.754A>G (p.Lys252Glu)
n.94A>G
c.1267A>G (p.Lys423Glu)
c.925A>G (p.Lys309Glu)
c.1273A>G (p.Lys425Glu)
c.1237A>G (p.Lys413Glu)
c.417A>G
c.1327A>G (p.Lys443Glu)
c.1231A>G (p.Lys411Glu)
c.838A>G (p.Lys280Glu)
c.1234A>G (p.Lys412Glu)
c.265A>G (p.Lys89Glu)
20g.63415071T>GCA409646756KCNQ2c.1303A>C (p.Lys435Gln)
c.1357A>C (p.Lys453Gln)
c.754A>C (p.Lys252Gln)
n.94A>C
c.1267A>C (p.Lys423Gln)
c.925A>C (p.Lys309Gln)
c.1273A>C (p.Lys425Gln)
c.1237A>C (p.Lys413Gln)
c.417A>C
c.1327A>C (p.Lys443Gln)
c.1231A>C (p.Lys411Gln)
c.838A>C (p.Lys280Gln)
c.1234A>C (p.Lys412Gln)
c.265A>C (p.Lys89Gln)
 gnomAD v4
20g.63415071T=CA2374778842KCNQ2c.1303A= (p.Lys435=)
c.1357A= (p.Lys453=)
c.754A= (p.Lys252=)
n.94A=
c.1267A= (p.Lys423=)
c.925A= (p.Lys309=)
c.1273A= (p.Lys425=)
c.1237A= (p.Lys413=)
c.417A=
c.1327A= (p.Lys443=)
c.1231A= (p.Lys411=)
c.838A= (p.Lys280=)
c.1234A= (p.Lys412=)
c.265A= (p.Lys89=)
20g.63415072G>ACA511339793KCNQ2c.1302C>T (p.Ala434=)
c.1356C>T (p.Ala452=)
c.753C>T (p.Ala251=)
n.93C>T
c.1266C>T (p.Ala422=)
c.924C>T (p.Ala308=)
c.1272C>T (p.Ala424=)
c.1236C>T (p.Ala412=)
c.416C>T
c.1326C>T (p.Ala442=)
c.1230C>T (p.Ala410=)
c.837C>T (p.Ala279=)
c.1233C>T (p.Ala411=)
c.264C>T (p.Ala88=)
 ClinVar
20g.63415072G>CCA511339794KCNQ2c.1302C>G (p.Ala434=)
c.1356C>G (p.Ala452=)
c.753C>G (p.Ala251=)
n.93C>G
c.1266C>G (p.Ala422=)
c.924C>G (p.Ala308=)
c.1272C>G (p.Ala424=)
c.1236C>G (p.Ala412=)
c.416C>G
c.1326C>G (p.Ala442=)
c.1230C>G (p.Ala410=)
c.837C>G (p.Ala279=)
c.1233C>G (p.Ala411=)
c.264C>G (p.Ala88=)
20g.63415072G>TCA511339795KCNQ2c.1302C>A (p.Ala434=)
c.1356C>A (p.Ala452=)
c.753C>A (p.Ala251=)
n.93C>A
c.1266C>A (p.Ala422=)
c.924C>A (p.Ala308=)
c.1272C>A (p.Ala424=)
c.1236C>A (p.Ala412=)
c.416C>A
c.1326C>A (p.Ala442=)
c.1230C>A (p.Ala410=)
c.837C>A (p.Ala279=)
c.1233C>A (p.Ala411=)
c.264C>A (p.Ala88=)
20g.63415073dupCA1139666780KCNQ2c.1302dup (p.Lys435GlnfsTer?)
c.1356dup (p.Lys453GlnfsTer?)
c.753dup (p.Lys252GlnfsTer?)
n.93dup
c.1266dup (p.Lys423GlnfsTer?)
c.924dup (p.Lys309GlnfsTer?)
c.1272dup (p.Lys425GlnfsTer?)
c.1236dup (p.Lys413GlnfsTer?)
c.416dup
c.1326dup (p.Lys443GlnfsTer?)
c.1230dup (p.Lys411GlnfsTer?)
c.837dup (p.Lys280GlnfsTer?)
c.1233dup (p.Lys412GlnfsTer?)
c.264dup (p.Lys89GlnfsTer?)
 ClinVar dbSNP
20g.63415073G>ACA409646759KCNQ2c.1301C>T (p.Ala434Val)
c.1355C>T (p.Ala452Val)
c.752C>T (p.Ala251Val)
n.92C>T
c.1265C>T (p.Ala422Val)
c.923C>T (p.Ala308Val)
c.1271C>T (p.Ala424Val)
c.1235C>T (p.Ala412Val)
c.415C>T
c.1325C>T (p.Ala442Val)
c.1229C>T (p.Ala410Val)
c.836C>T (p.Ala279Val)
c.1232C>T (p.Ala411Val)
c.263C>T (p.Ala88Val)
 gnomAD v4
20g.63415073G>CCA409646761KCNQ2c.1301C>G (p.Ala434Gly)
c.1355C>G (p.Ala452Gly)
c.752C>G (p.Ala251Gly)
n.92C>G
c.1265C>G (p.Ala422Gly)
c.923C>G (p.Ala308Gly)
c.1271C>G (p.Ala424Gly)
c.1235C>G (p.Ala412Gly)
c.415C>G
c.1325C>G (p.Ala442Gly)
c.1229C>G (p.Ala410Gly)
c.836C>G (p.Ala279Gly)
c.1232C>G (p.Ala411Gly)
c.263C>G (p.Ala88Gly)
20g.63415073G>TCA409646760KCNQ2c.1301C>A (p.Ala434Asp)
c.1355C>A (p.Ala452Asp)
c.752C>A (p.Ala251Asp)
n.92C>A
c.1265C>A (p.Ala422Asp)
c.923C>A (p.Ala308Asp)
c.1271C>A (p.Ala424Asp)
c.1235C>A (p.Ala412Asp)
c.415C>A
c.1325C>A (p.Ala442Asp)
c.1229C>A (p.Ala410Asp)
c.836C>A (p.Ala279Asp)
c.1232C>A (p.Ala411Asp)
c.263C>A (p.Ala88Asp)
 gnomAD v4
20g.63415074C>ACA409646762KCNQ2c.1300G>T (p.Ala434Ser)
c.1354G>T (p.Ala452Ser)
c.751G>T (p.Ala251Ser)
n.91G>T
c.1264G>T (p.Ala422Ser)
c.922G>T (p.Ala308Ser)
c.1270G>T (p.Ala424Ser)
c.1234G>T (p.Ala412Ser)
c.414G>T
c.1324G>T (p.Ala442Ser)
c.1228G>T (p.Ala410Ser)
c.835G>T (p.Ala279Ser)
c.1231G>T (p.Ala411Ser)
c.262G>T (p.Ala88Ser)
20g.63415074C=CA2374778843KCNQ2c.1300G= (p.Ala434=)
c.1354G= (p.Ala452=)
c.751G= (p.Ala251=)
n.91G=
c.1264G= (p.Ala422=)
c.922G= (p.Ala308=)
c.1270G= (p.Ala424=)
c.1234G= (p.Ala412=)
c.414G=
c.1324G= (p.Ala442=)
c.1228G= (p.Ala410=)
c.835G= (p.Ala279=)
c.1231G= (p.Ala411=)
c.262G= (p.Ala88=)
20g.63415074C>GCA409646764KCNQ2c.1300G>C (p.Ala434Pro)
c.1354G>C (p.Ala452Pro)
c.751G>C (p.Ala251Pro)
n.91G>C
c.1264G>C (p.Ala422Pro)
c.922G>C (p.Ala308Pro)
c.1270G>C (p.Ala424Pro)
c.1234G>C (p.Ala412Pro)
c.414G>C
c.1324G>C (p.Ala442Pro)
c.1228G>C (p.Ala410Pro)
c.835G>C (p.Ala279Pro)
c.1231G>C (p.Ala411Pro)
c.262G>C (p.Ala88Pro)
20g.63415074C>TCA409646763KCNQ2c.1300G>A (p.Ala434Thr)
c.1354G>A (p.Ala452Thr)
c.751G>A (p.Ala251Thr)
n.91G>A
c.1264G>A (p.Ala422Thr)
c.922G>A (p.Ala308Thr)
c.1270G>A (p.Ala424Thr)
c.1234G>A (p.Ala412Thr)
c.414G>A
c.1324G>A (p.Ala442Thr)
c.1228G>A (p.Ala410Thr)
c.835G>A (p.Ala279Thr)
c.1231G>A (p.Ala411Thr)
c.262G>A (p.Ala88Thr)
 ClinVar dbSNP gnomAD v4
20g.63415075A>CCA511339568KCNQ2c.1299T>G (p.Ala433=)
c.1353T>G (p.Ala451=)
c.750T>G (p.Ala250=)
n.90T>G
c.1263T>G (p.Ala421=)
c.921T>G (p.Ala307=)
c.1269T>G (p.Ala423=)
c.1233T>G (p.Ala411=)
c.413T>G
c.1323T>G (p.Ala441=)
c.1227T>G (p.Ala409=)
c.834T>G (p.Ala278=)
c.1230T>G (p.Ala410=)
c.261T>G (p.Ala87=)
20g.63415075A>GCA511339569KCNQ2c.1299T>C (p.Ala433=)
c.1353T>C (p.Ala451=)
c.750T>C (p.Ala250=)
n.90T>C
c.1263T>C (p.Ala421=)
c.921T>C (p.Ala307=)
c.1269T>C (p.Ala423=)
c.1233T>C (p.Ala411=)
c.413T>C
c.1323T>C (p.Ala441=)
c.1227T>C (p.Ala409=)
c.834T>C (p.Ala278=)
c.1230T>C (p.Ala410=)
c.261T>C (p.Ala87=)
20g.63415075A>TCA511339570KCNQ2c.1299T>A (p.Ala433=)
c.1353T>A (p.Ala451=)
c.750T>A (p.Ala250=)
n.90T>A
c.1263T>A (p.Ala421=)
c.921T>A (p.Ala307=)
c.1269T>A (p.Ala423=)
c.1233T>A (p.Ala411=)
c.413T>A
c.1323T>A (p.Ala441=)
c.1227T>A (p.Ala409=)
c.834T>A (p.Ala278=)
c.1230T>A (p.Ala410=)
c.261T>A (p.Ala87=)
20g.63415076G>ACA9958466KCNQ2c.1298C>T (p.Ala433Val)
c.1352C>T (p.Ala451Val)
c.749C>T (p.Ala250Val)
n.89C>T
c.1262C>T (p.Ala421Val)
c.920C>T (p.Ala307Val)
c.1268C>T (p.Ala423Val)
c.1232C>T (p.Ala411Val)
c.412C>T
c.1322C>T (p.Ala441Val)
c.1226C>T (p.Ala409Val)
c.833C>T (p.Ala278Val)
c.1229C>T (p.Ala410Val)
c.260C>T (p.Ala87Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415076G>CCA409646766KCNQ2c.1298C>G (p.Ala433Gly)
c.1352C>G (p.Ala451Gly)
c.749C>G (p.Ala250Gly)
n.89C>G
c.1262C>G (p.Ala421Gly)
c.920C>G (p.Ala307Gly)
c.1268C>G (p.Ala423Gly)
c.1232C>G (p.Ala411Gly)
c.412C>G
c.1322C>G (p.Ala441Gly)
c.1226C>G (p.Ala409Gly)
c.833C>G (p.Ala278Gly)
c.1229C>G (p.Ala410Gly)
c.260C>G (p.Ala87Gly)
20g.63415076G=CA2374778844KCNQ2c.1298C= (p.Ala433=)
c.1352C= (p.Ala451=)
c.749C= (p.Ala250=)
n.89C=
c.1262C= (p.Ala421=)
c.920C= (p.Ala307=)
c.1268C= (p.Ala423=)
c.1232C= (p.Ala411=)
c.412C=
c.1322C= (p.Ala441=)
c.1226C= (p.Ala409=)
c.833C= (p.Ala278=)
c.1229C= (p.Ala410=)
c.260C= (p.Ala87=)
20g.63415076G>TCA409646765KCNQ2c.1298C>A (p.Ala433Asp)
c.1352C>A (p.Ala451Asp)
c.749C>A (p.Ala250Asp)
n.89C>A
c.1262C>A (p.Ala421Asp)
c.920C>A (p.Ala307Asp)
c.1268C>A (p.Ala423Asp)
c.1232C>A (p.Ala411Asp)
c.412C>A
c.1322C>A (p.Ala441Asp)
c.1226C>A (p.Ala409Asp)
c.833C>A (p.Ala278Asp)
c.1229C>A (p.Ala410Asp)
c.260C>A (p.Ala87Asp)
 gnomAD v4
20g.63415077C>ACA409646767KCNQ2c.1297G>T (p.Ala433Ser)
c.1351G>T (p.Ala451Ser)
c.748G>T (p.Ala250Ser)
n.88G>T
c.1261G>T (p.Ala421Ser)
c.919G>T (p.Ala307Ser)
c.1267G>T (p.Ala423Ser)
c.1231G>T (p.Ala411Ser)
c.411G>T
c.1321G>T (p.Ala441Ser)
c.1225G>T (p.Ala409Ser)
c.832G>T (p.Ala278Ser)
c.1228G>T (p.Ala410Ser)
c.259G>T (p.Ala87Ser)
20g.63415077C>GCA409646769KCNQ2c.1297G>C (p.Ala433Pro)
c.1351G>C (p.Ala451Pro)
c.748G>C (p.Ala250Pro)
n.88G>C
c.1261G>C (p.Ala421Pro)
c.919G>C (p.Ala307Pro)
c.1267G>C (p.Ala423Pro)
c.1231G>C (p.Ala411Pro)
c.411G>C
c.1321G>C (p.Ala441Pro)
c.1225G>C (p.Ala409Pro)
c.832G>C (p.Ala278Pro)
c.1228G>C (p.Ala410Pro)
c.259G>C (p.Ala87Pro)
20g.63415077C>TCA409646768KCNQ2c.1297G>A (p.Ala433Thr)
c.1351G>A (p.Ala451Thr)
c.748G>A (p.Ala250Thr)
n.88G>A
c.1261G>A (p.Ala421Thr)
c.919G>A (p.Ala307Thr)
c.1267G>A (p.Ala423Thr)
c.1231G>A (p.Ala411Thr)
c.411G>A
c.1321G>A (p.Ala441Thr)
c.1225G>A (p.Ala409Thr)
c.832G>A (p.Ala278Thr)
c.1228G>A (p.Ala410Thr)
c.259G>A (p.Ala87Thr)
 gnomAD v4
20g.63415078C>ACA511339574KCNQ2c.1296G>T (p.Val432=)
c.1350G>T (p.Val450=)
c.747G>T (p.Val249=)
n.87G>T
c.1260G>T (p.Val420=)
c.918G>T (p.Val306=)
c.1266G>T (p.Val422=)
c.1230G>T (p.Val410=)
c.410G>T
c.1320G>T (p.Val440=)
c.1224G>T (p.Val408=)
c.831G>T (p.Val277=)
c.1227G>T (p.Val409=)
c.258G>T (p.Val86=)
20g.63415078C>GCA511339575KCNQ2c.1296G>C (p.Val432=)
c.1350G>C (p.Val450=)
c.747G>C (p.Val249=)
n.87G>C
c.1260G>C (p.Val420=)
c.918G>C (p.Val306=)
c.1266G>C (p.Val422=)
c.1230G>C (p.Val410=)
c.410G>C
c.1320G>C (p.Val440=)
c.1224G>C (p.Val408=)
c.831G>C (p.Val277=)
c.1227G>C (p.Val409=)
c.258G>C (p.Val86=)
20g.63415078C>TCA511339576KCNQ2c.1296G>A (p.Val432=)
c.1350G>A (p.Val450=)
c.747G>A (p.Val249=)
n.87G>A
c.1260G>A (p.Val420=)
c.918G>A (p.Val306=)
c.1266G>A (p.Val422=)
c.1230G>A (p.Val410=)
c.410G>A
c.1320G>A (p.Val440=)
c.1224G>A (p.Val408=)
c.831G>A (p.Val277=)
c.1227G>A (p.Val409=)
c.258G>A (p.Val86=)
20g.63415082_63415104delCA2580098422KCNQ2c.1274_1296del (p.Val425GlyfsTer?)
c.1328_1350del (p.Val443GlyfsTer?)
c.725_747del (p.Val242GlyfsTer?)
n.75-10_87del
c.1248-10_1260del
c.906-10_918del
c.1244_1266del (p.Val415GlyfsTer?)
c.1218-10_1230del
c.388_410del
c.1298_1320del (p.Val433GlyfsTer?)
c.1202_1224del (p.Val401GlyfsTer?)
c.809_831del (p.Val270GlyfsTer?)
c.1205_1227del (p.Val402GlyfsTer?)
c.236_258del (p.Val79GlyfsTer?)
 ClinVar
20g.63415079A>CCA409646770KCNQ2c.1295T>G (p.Val432Gly)
c.1349T>G (p.Val450Gly)
c.746T>G (p.Val249Gly)
n.86T>G
c.1259T>G (p.Val420Gly)
c.917T>G (p.Val306Gly)
c.1265T>G (p.Val422Gly)
c.1229T>G (p.Val410Gly)
c.409T>G
c.1319T>G (p.Val440Gly)
c.1223T>G (p.Val408Gly)
c.830T>G (p.Val277Gly)
c.1226T>G (p.Val409Gly)
c.257T>G (p.Val86Gly)
20g.63415079A>GCA409646771KCNQ2c.1295T>C (p.Val432Ala)
c.1349T>C (p.Val450Ala)
c.746T>C (p.Val249Ala)
n.86T>C
c.1259T>C (p.Val420Ala)
c.917T>C (p.Val306Ala)
c.1265T>C (p.Val422Ala)
c.1229T>C (p.Val410Ala)
c.409T>C
c.1319T>C (p.Val440Ala)
c.1223T>C (p.Val408Ala)
c.830T>C (p.Val277Ala)
c.1226T>C (p.Val409Ala)
c.257T>C (p.Val86Ala)
20g.63415079A>TCA409646772KCNQ2c.1295T>A (p.Val432Glu)
c.1349T>A (p.Val450Glu)
c.746T>A (p.Val249Glu)
n.86T>A
c.1259T>A (p.Val420Glu)
c.917T>A (p.Val306Glu)
c.1265T>A (p.Val422Glu)
c.1229T>A (p.Val410Glu)
c.409T>A
c.1319T>A (p.Val440Glu)
c.1223T>A (p.Val408Glu)
c.830T>A (p.Val277Glu)
c.1226T>A (p.Val409Glu)
c.257T>A (p.Val86Glu)
20g.63415080C>ACA409646773KCNQ2c.1294G>T (p.Val432Leu)
c.1348G>T (p.Val450Leu)
c.745G>T (p.Val249Leu)
n.85G>T
c.1258G>T (p.Val420Leu)
c.916G>T (p.Val306Leu)
c.1264G>T (p.Val422Leu)
c.1228G>T (p.Val410Leu)
c.408G>T
c.1318G>T (p.Val440Leu)
c.1222G>T (p.Val408Leu)
c.829G>T (p.Val277Leu)
c.1225G>T (p.Val409Leu)
c.256G>T (p.Val86Leu)
20g.63415080C=CA2374778845KCNQ2c.1294G= (p.Val432=)
c.1348G= (p.Val450=)
c.745G= (p.Val249=)
n.85G=
c.1258G= (p.Val420=)
c.916G= (p.Val306=)
c.1264G= (p.Val422=)
c.1228G= (p.Val410=)
c.408G=
c.1318G= (p.Val440=)
c.1222G= (p.Val408=)
c.829G= (p.Val277=)
c.1225G= (p.Val409=)
c.256G= (p.Val86=)
20g.63415080C>GCA409646774KCNQ2c.1294G>C (p.Val432Leu)
c.1348G>C (p.Val450Leu)
c.745G>C (p.Val249Leu)
n.85G>C
c.1258G>C (p.Val420Leu)
c.916G>C (p.Val306Leu)
c.1264G>C (p.Val422Leu)
c.1228G>C (p.Val410Leu)
c.408G>C
c.1318G>C (p.Val440Leu)
c.1222G>C (p.Val408Leu)
c.829G>C (p.Val277Leu)
c.1225G>C (p.Val409Leu)
c.256G>C (p.Val86Leu)
20g.63415080C>TCA288922KCNQ2c.1294G>A (p.Val432Met)
c.1348G>A (p.Val450Met)
c.745G>A (p.Val249Met)
n.85G>A
c.1258G>A (p.Val420Met)
c.916G>A (p.Val306Met)
c.1264G>A (p.Val422Met)
c.1228G>A (p.Val410Met)
c.408G>A
c.1318G>A (p.Val440Met)
c.1222G>A (p.Val408Met)
c.829G>A (p.Val277Met)
c.1225G>A (p.Val409Met)
c.256G>A (p.Val86Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415081G>ACA9958468KCNQ2c.1293C>T (p.Gly431=)
c.1347C>T (p.Gly449=)
c.744C>T (p.Gly248=)
n.84C>T
c.1257C>T (p.Gly419=)
c.915C>T (p.Gly305=)
c.1263C>T (p.Gly421=)
c.1227C>T (p.Gly409=)
c.407C>T
c.1317C>T (p.Gly439=)
c.1221C>T (p.Gly407=)
c.828C>T (p.Gly276=)
c.1224C>T (p.Gly408=)
c.255C>T (p.Gly85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415081G>CCA511339577KCNQ2c.1293C>G (p.Gly431=)
c.1347C>G (p.Gly449=)
c.744C>G (p.Gly248=)
n.84C>G
c.1257C>G (p.Gly419=)
c.915C>G (p.Gly305=)
c.1263C>G (p.Gly421=)
c.1227C>G (p.Gly409=)
c.407C>G
c.1317C>G (p.Gly439=)
c.1221C>G (p.Gly407=)
c.828C>G (p.Gly276=)
c.1224C>G (p.Gly408=)
c.255C>G (p.Gly85=)
20g.63415081G=CA2374778846KCNQ2c.1293C= (p.Gly431=)
c.1347C= (p.Gly449=)
c.744C= (p.Gly248=)
n.84C=
c.1257C= (p.Gly419=)
c.915C= (p.Gly305=)
c.1263C= (p.Gly421=)
c.1227C= (p.Gly409=)
c.407C=
c.1317C= (p.Gly439=)
c.1221C= (p.Gly407=)
c.828C= (p.Gly276=)
c.1224C= (p.Gly408=)
c.255C= (p.Gly85=)
20g.63415081G>TCA9958467KCNQ2c.1293C>A (p.Gly431=)
c.1347C>A (p.Gly449=)
c.744C>A (p.Gly248=)
n.84C>A
c.1257C>A (p.Gly419=)
c.915C>A (p.Gly305=)
c.1263C>A (p.Gly421=)
c.1227C>A (p.Gly409=)
c.407C>A
c.1317C>A (p.Gly439=)
c.1221C>A (p.Gly407=)
c.828C>A (p.Gly276=)
c.1224C>A (p.Gly408=)
c.255C>A (p.Gly85=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415082C>ACA409646775KCNQ2c.1292G>T (p.Gly431Val)
c.1346G>T (p.Gly449Val)
c.743G>T (p.Gly248Val)
n.83G>T
c.1256G>T (p.Gly419Val)
c.914G>T (p.Gly305Val)
c.1262G>T (p.Gly421Val)
c.1226G>T (p.Gly409Val)
c.406G>T
c.1316G>T (p.Gly439Val)
c.1220G>T (p.Gly407Val)
c.827G>T (p.Gly276Val)
c.1223G>T (p.Gly408Val)
c.254G>T (p.Gly85Val)
20g.63415082C>GCA409646776KCNQ2c.1292G>C (p.Gly431Ala)
c.1346G>C (p.Gly449Ala)
c.743G>C (p.Gly248Ala)
n.83G>C
c.1256G>C (p.Gly419Ala)
c.914G>C (p.Gly305Ala)
c.1262G>C (p.Gly421Ala)
c.1226G>C (p.Gly409Ala)
c.406G>C
c.1316G>C (p.Gly439Ala)
c.1220G>C (p.Gly407Ala)
c.827G>C (p.Gly276Ala)
c.1223G>C (p.Gly408Ala)
c.254G>C (p.Gly85Ala)
20g.63415082C>TCA409646777KCNQ2c.1292G>A (p.Gly431Asp)
c.1346G>A (p.Gly449Asp)
c.743G>A (p.Gly248Asp)
n.83G>A
c.1256G>A (p.Gly419Asp)
c.914G>A (p.Gly305Asp)
c.1262G>A (p.Gly421Asp)
c.1226G>A (p.Gly409Asp)
c.406G>A
c.1316G>A (p.Gly439Asp)
c.1220G>A (p.Gly407Asp)
c.827G>A (p.Gly276Asp)
c.1223G>A (p.Gly408Asp)
c.254G>A (p.Gly85Asp)
20g.63415083C>ACA409646779KCNQ2c.1291G>T (p.Gly431Cys)
c.1345G>T (p.Gly449Cys)
c.742G>T (p.Gly248Cys)
n.82G>T
c.1255G>T (p.Gly419Cys)
c.913G>T (p.Gly305Cys)
c.1261G>T (p.Gly421Cys)
c.1225G>T (p.Gly409Cys)
c.405G>T
c.1315G>T (p.Gly439Cys)
c.1219G>T (p.Gly407Cys)
c.826G>T (p.Gly276Cys)
c.1222G>T (p.Gly408Cys)
c.253G>T (p.Gly85Cys)
20g.63415083C=CA2374778847KCNQ2c.1291G= (p.Gly431=)
c.1345G= (p.Gly449=)
c.742G= (p.Gly248=)
n.82G=
c.1255G= (p.Gly419=)
c.913G= (p.Gly305=)
c.1261G= (p.Gly421=)
c.1225G= (p.Gly409=)
c.405G=
c.1315G= (p.Gly439=)
c.1219G= (p.Gly407=)
c.826G= (p.Gly276=)
c.1222G= (p.Gly408=)
c.253G= (p.Gly85=)
20g.63415083C>GCA409646778KCNQ2c.1291G>C (p.Gly431Arg)
c.1345G>C (p.Gly449Arg)
c.742G>C (p.Gly248Arg)
n.82G>C
c.1255G>C (p.Gly419Arg)
c.913G>C (p.Gly305Arg)
c.1261G>C (p.Gly421Arg)
c.1225G>C (p.Gly409Arg)
c.405G>C
c.1315G>C (p.Gly439Arg)
c.1219G>C (p.Gly407Arg)
c.826G>C (p.Gly276Arg)
c.1222G>C (p.Gly408Arg)
c.253G>C (p.Gly85Arg)
20g.63415083C>TCA9958469KCNQ2c.1291G>A (p.Gly431Ser)
c.1345G>A (p.Gly449Ser)
c.742G>A (p.Gly248Ser)
n.82G>A
c.1255G>A (p.Gly419Ser)
c.913G>A (p.Gly305Ser)
c.1261G>A (p.Gly421Ser)
c.1225G>A (p.Gly409Ser)
c.405G>A
c.1315G>A (p.Gly439Ser)
c.1219G>A (p.Gly407Ser)
c.826G>A (p.Gly276Ser)
c.1222G>A (p.Gly408Ser)
c.253G>A (p.Gly85Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415084T>ACA511339584KCNQ2c.1290A>T (p.Arg430=)
c.1344A>T (p.Arg448=)
c.741A>T (p.Arg247=)
n.81A>T
c.1254A>T (p.Arg418=)
c.912A>T (p.Arg304=)
c.1260A>T (p.Arg420=)
c.1224A>T (p.Arg408=)
c.404A>T
c.1314A>T (p.Arg438=)
c.1218A>T (p.Arg406=)
c.825A>T (p.Arg275=)
c.1221A>T (p.Arg407=)
c.252A>T (p.Arg84=)
20g.63415084T>CCA511339581KCNQ2c.1290A>G (p.Arg430=)
c.1344A>G (p.Arg448=)
c.741A>G (p.Arg247=)
n.81A>G
c.1254A>G (p.Arg418=)
c.912A>G (p.Arg304=)
c.1260A>G (p.Arg420=)
c.1224A>G (p.Arg408=)
c.404A>G
c.1314A>G (p.Arg438=)
c.1218A>G (p.Arg406=)
c.825A>G (p.Arg275=)
c.1221A>G (p.Arg407=)
c.252A>G (p.Arg84=)
20g.63415084T>GCA511339582KCNQ2c.1290A>C (p.Arg430=)
c.1344A>C (p.Arg448=)
c.741A>C (p.Arg247=)
n.81A>C
c.1254A>C (p.Arg418=)
c.912A>C (p.Arg304=)
c.1260A>C (p.Arg420=)
c.1224A>C (p.Arg408=)
c.404A>C
c.1314A>C (p.Arg438=)
c.1218A>C (p.Arg406=)
c.825A>C (p.Arg275=)
c.1221A>C (p.Arg407=)
c.252A>C (p.Arg84=)
20g.63415085C>ACA409646780KCNQ2c.1289G>T (p.Arg430Leu)
c.1343G>T (p.Arg448Leu)
c.740G>T (p.Arg247Leu)
n.80G>T
c.1253G>T (p.Arg418Leu)
c.911G>T (p.Arg304Leu)
c.1259G>T (p.Arg420Leu)
c.1223G>T (p.Arg408Leu)
c.403G>T
c.1313G>T (p.Arg438Leu)
c.1217G>T (p.Arg406Leu)
c.824G>T (p.Arg275Leu)
c.1220G>T (p.Arg407Leu)
c.251G>T (p.Arg84Leu)
 gnomAD v4
20g.63415085C=CA2374778848KCNQ2c.1289G= (p.Arg430=)
c.1343G= (p.Arg448=)
c.740G= (p.Arg247=)
n.80G=
c.1253G= (p.Arg418=)
c.911G= (p.Arg304=)
c.1259G= (p.Arg420=)
c.1223G= (p.Arg408=)
c.403G=
c.1313G= (p.Arg438=)
c.1217G= (p.Arg406=)
c.824G= (p.Arg275=)
c.1220G= (p.Arg407=)
c.251G= (p.Arg84=)
20g.63415085C>GCA409646781KCNQ2c.1289G>C (p.Arg430Pro)
c.1343G>C (p.Arg448Pro)
c.740G>C (p.Arg247Pro)
n.80G>C
c.1253G>C (p.Arg418Pro)
c.911G>C (p.Arg304Pro)
c.1259G>C (p.Arg420Pro)
c.1223G>C (p.Arg408Pro)
c.403G>C
c.1313G>C (p.Arg438Pro)
c.1217G>C (p.Arg406Pro)
c.824G>C (p.Arg275Pro)
c.1220G>C (p.Arg407Pro)
c.251G>C (p.Arg84Pro)
20g.63415085C>TCA9958470KCNQ2c.1289G>A (p.Arg430Gln)
c.1343G>A (p.Arg448Gln)
c.740G>A (p.Arg247Gln)
n.80G>A
c.1253G>A (p.Arg418Gln)
c.911G>A (p.Arg304Gln)
c.1259G>A (p.Arg420Gln)
c.1223G>A (p.Arg408Gln)
c.403G>A
c.1313G>A (p.Arg438Gln)
c.1217G>A (p.Arg406Gln)
c.824G>A (p.Arg275Gln)
c.1220G>A (p.Arg407Gln)
c.251G>A (p.Arg84Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415086G>ACA315443KCNQ2c.1288C>T (p.Arg430Ter)
c.1342C>T (p.Arg448Ter)
c.739C>T (p.Arg247Ter)
n.79C>T
c.1252C>T (p.Arg418Ter)
c.910C>T (p.Arg304Ter)
c.1258C>T (p.Arg420Ter)
c.1222C>T (p.Arg408Ter)
c.402C>T
c.1312C>T (p.Arg438Ter)
c.1216C>T (p.Arg406Ter)
c.823C>T (p.Arg275Ter)
c.1219C>T (p.Arg407Ter)
c.250C>T (p.Arg84Ter)
 ClinVar dbSNP gnomAD v4
20g.63415086G>CCA409646782KCNQ2c.1288C>G (p.Arg430Gly)
c.1342C>G (p.Arg448Gly)
c.739C>G (p.Arg247Gly)
n.79C>G
c.1252C>G (p.Arg418Gly)
c.910C>G (p.Arg304Gly)
c.1258C>G (p.Arg420Gly)
c.1222C>G (p.Arg408Gly)
c.402C>G
c.1312C>G (p.Arg438Gly)
c.1216C>G (p.Arg406Gly)
c.823C>G (p.Arg275Gly)
c.1219C>G (p.Arg407Gly)
c.250C>G (p.Arg84Gly)
20g.63415086G=CA2374778849KCNQ2c.1288C= (p.Arg430=)
c.1342C= (p.Arg448=)
c.739C= (p.Arg247=)
n.79C=
c.1252C= (p.Arg418=)
c.910C= (p.Arg304=)
c.1258C= (p.Arg420=)
c.1222C= (p.Arg408=)
c.402C=
c.1312C= (p.Arg438=)
c.1216C= (p.Arg406=)
c.823C= (p.Arg275=)
c.1219C= (p.Arg407=)
c.250C= (p.Arg84=)
20g.63415086G>TCA511339585KCNQ2c.1288C>A (p.Arg430=)
c.1342C>A (p.Arg448=)
c.739C>A (p.Arg247=)
n.79C>A
c.1252C>A (p.Arg418=)
c.910C>A (p.Arg304=)
c.1258C>A (p.Arg420=)
c.1222C>A (p.Arg408=)
c.402C>A
c.1312C>A (p.Arg438=)
c.1216C>A (p.Arg406=)
c.823C>A (p.Arg275=)
c.1219C>A (p.Arg407=)
c.250C>A (p.Arg84=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415090delCA2573157183KCNQ2c.1288del (p.Arg430GlufsTer16)
c.1342del (p.Arg448GlufsTer16)
c.739del (p.Arg247GlufsTer16)
n.79del
c.1252del (p.Arg418GlufsTer16)
c.910del (p.Arg304GlufsTer16)
c.1258del (p.Arg420GlufsTer16)
c.1222del (p.Arg408GlufsTer16)
c.402del
c.1312del (p.Arg438GlufsTer16)
c.1216del (p.Arg406GlufsTer16)
c.823del (p.Arg275GlufsTer16)
c.1219del (p.Arg407GlufsTer16)
c.250del (p.Arg84GlufsTer16)
 ClinVar dbSNP gnomAD v4
20g.63415087G>ACA511339588KCNQ2c.1287C>T (p.Pro429=)
c.1341C>T (p.Pro447=)
c.738C>T (p.Pro246=)
n.78C>T
c.1251C>T (p.Pro417=)
c.909C>T (p.Pro303=)
c.1257C>T (p.Pro419=)
c.1221C>T (p.Pro407=)
c.401C>T
c.1311C>T (p.Pro437=)
c.1215C>T (p.Pro405=)
c.822C>T (p.Pro274=)
c.1218C>T (p.Pro406=)
c.249C>T (p.Pro83=)
 dbSNP gnomAD v2
20g.63415087G>CCA511339587KCNQ2c.1287C>G (p.Pro429=)
c.1341C>G (p.Pro447=)
c.738C>G (p.Pro246=)
n.78C>G
c.1251C>G (p.Pro417=)
c.909C>G (p.Pro303=)
c.1257C>G (p.Pro419=)
c.1221C>G (p.Pro407=)
c.401C>G
c.1311C>G (p.Pro437=)
c.1215C>G (p.Pro405=)
c.822C>G (p.Pro274=)
c.1218C>G (p.Pro406=)
c.249C>G (p.Pro83=)
20g.63415087G=CA2374778850KCNQ2c.1287C= (p.Pro429=)
c.1341C= (p.Pro447=)
c.738C= (p.Pro246=)
n.78C=
c.1251C= (p.Pro417=)
c.909C= (p.Pro303=)
c.1257C= (p.Pro419=)
c.1221C= (p.Pro407=)
c.401C=
c.1311C= (p.Pro437=)
c.1215C= (p.Pro405=)
c.822C= (p.Pro274=)
c.1218C= (p.Pro406=)
c.249C= (p.Pro83=)
20g.63415087G>TCA511339586KCNQ2c.1287C>A (p.Pro429=)
c.1341C>A (p.Pro447=)
c.738C>A (p.Pro246=)
n.78C>A
c.1251C>A (p.Pro417=)
c.909C>A (p.Pro303=)
c.1257C>A (p.Pro419=)
c.1221C>A (p.Pro407=)
c.401C>A
c.1311C>A (p.Pro437=)
c.1215C>A (p.Pro405=)
c.822C>A (p.Pro274=)
c.1218C>A (p.Pro406=)
c.249C>A (p.Pro83=)
20g.63415088G>ACA409646783KCNQ2c.1286C>T (p.Pro429Leu)
c.1340C>T (p.Pro447Leu)
c.737C>T (p.Pro246Leu)
n.77C>T
c.1250C>T (p.Pro417Leu)
c.908C>T (p.Pro303Leu)
c.1256C>T (p.Pro419Leu)
c.1220C>T (p.Pro407Leu)
c.400C>T
c.1310C>T (p.Pro437Leu)
c.1214C>T (p.Pro405Leu)
c.821C>T (p.Pro274Leu)
c.1217C>T (p.Pro406Leu)
c.248C>T (p.Pro83Leu)
20g.63415088G>CCA409646784KCNQ2c.1286C>G (p.Pro429Arg)
c.1340C>G (p.Pro447Arg)
c.737C>G (p.Pro246Arg)
n.77C>G
c.1250C>G (p.Pro417Arg)
c.908C>G (p.Pro303Arg)
c.1256C>G (p.Pro419Arg)
c.1220C>G (p.Pro407Arg)
c.400C>G
c.1310C>G (p.Pro437Arg)
c.1214C>G (p.Pro405Arg)
c.821C>G (p.Pro274Arg)
c.1217C>G (p.Pro406Arg)
c.248C>G (p.Pro83Arg)
20g.63415088G>TCA409646785KCNQ2c.1286C>A (p.Pro429His)
c.1340C>A (p.Pro447His)
c.737C>A (p.Pro246His)
n.77C>A
c.1250C>A (p.Pro417His)
c.908C>A (p.Pro303His)
c.1256C>A (p.Pro419His)
c.1220C>A (p.Pro407His)
c.400C>A
c.1310C>A (p.Pro437His)
c.1214C>A (p.Pro405His)
c.821C>A (p.Pro274His)
c.1217C>A (p.Pro406His)
c.248C>A (p.Pro83His)
 gnomAD v4
20g.63415089G>ACA409646786KCNQ2c.1285C>T (p.Pro429Ser)
c.1339C>T (p.Pro447Ser)
c.736C>T (p.Pro246Ser)
n.76C>T
c.1249C>T (p.Pro417Ser)
c.907C>T (p.Pro303Ser)
c.1255C>T (p.Pro419Ser)
c.1219C>T (p.Pro407Ser)
c.399C>T
c.1309C>T (p.Pro437Ser)
c.1213C>T (p.Pro405Ser)
c.820C>T (p.Pro274Ser)
c.1216C>T (p.Pro406Ser)
c.247C>T (p.Pro83Ser)
 gnomAD v4
20g.63415089G>CCA9958471KCNQ2c.1285C>G (p.Pro429Ala)
c.1339C>G (p.Pro447Ala)
c.736C>G (p.Pro246Ala)
n.76C>G
c.1249C>G (p.Pro417Ala)
c.907C>G (p.Pro303Ala)
c.1255C>G (p.Pro419Ala)
c.1219C>G (p.Pro407Ala)
c.399C>G
c.1309C>G (p.Pro437Ala)
c.1213C>G (p.Pro405Ala)
c.820C>G (p.Pro274Ala)
c.1216C>G (p.Pro406Ala)
c.247C>G (p.Pro83Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415089G=CA2374778851KCNQ2c.1285C= (p.Pro429=)
c.1339C= (p.Pro447=)
c.736C= (p.Pro246=)
n.76C=
c.1249C= (p.Pro417=)
c.907C= (p.Pro303=)
c.1255C= (p.Pro419=)
c.1219C= (p.Pro407=)
c.399C=
c.1309C= (p.Pro437=)
c.1213C= (p.Pro405=)
c.820C= (p.Pro274=)
c.1216C= (p.Pro406=)
c.247C= (p.Pro83=)
20g.63415089G>TCA409646787KCNQ2c.1285C>A (p.Pro429Thr)
c.1339C>A (p.Pro447Thr)
c.736C>A (p.Pro246Thr)
n.76C>A
c.1249C>A (p.Pro417Thr)
c.907C>A (p.Pro303Thr)
c.1255C>A (p.Pro419Thr)
c.1219C>A (p.Pro407Thr)
c.399C>A
c.1309C>A (p.Pro437Thr)
c.1213C>A (p.Pro405Thr)
c.820C>A (p.Pro274Thr)
c.1216C>A (p.Pro406Thr)
c.247C>A (p.Pro83Thr)
 gnomAD v4
20g.63415090G>ACA511339591KCNQ2c.1284C>T (p.Ser428=)
c.1338C>T (p.Ser446=)
c.735C>T (p.Ser245=)
n.75C>T
c.1248C>T (p.Ser416=)
c.906C>T (p.Ser302=)
c.1254C>T (p.Ser418=)
c.1218C>T (p.Ser406=)
c.398C>T
c.1308C>T (p.Ser436=)
c.1212C>T (p.Ser404=)
c.819C>T (p.Ser273=)
c.1215C>T (p.Ser405=)
c.246C>T (p.Ser82=)
 dbSNP gnomAD v2 gnomAD v4
20g.63415090G>CCA409646788KCNQ2c.1284C>G (p.Ser428Arg)
c.1338C>G (p.Ser446Arg)
c.735C>G (p.Ser245Arg)
n.75C>G
c.1248C>G (p.Ser416Arg)
c.906C>G (p.Ser302Arg)
c.1254C>G (p.Ser418Arg)
c.1218C>G (p.Ser406Arg)
c.398C>G
c.1308C>G (p.Ser436Arg)
c.1212C>G (p.Ser404Arg)
c.819C>G (p.Ser273Arg)
c.1215C>G (p.Ser405Arg)
c.246C>G (p.Ser82Arg)
20g.63415090G=CA2374778852KCNQ2c.1284C= (p.Ser428=)
c.1338C= (p.Ser446=)
c.735C= (p.Ser245=)
n.75C=
c.1248C= (p.Ser416=)
c.906C= (p.Ser302=)
c.1254C= (p.Ser418=)
c.1218C= (p.Ser406=)
c.398C=
c.1308C= (p.Ser436=)
c.1212C= (p.Ser404=)
c.819C= (p.Ser273=)
c.1215C= (p.Ser405=)
c.246C= (p.Ser82=)
20g.63415090G>TCA409646789KCNQ2c.1284C>A (p.Ser428Arg)
c.1338C>A (p.Ser446Arg)
c.735C>A (p.Ser245Arg)
n.75C>A
c.1248C>A (p.Ser416Arg)
c.906C>A (p.Ser302Arg)
c.1254C>A (p.Ser418Arg)
c.1218C>A (p.Ser406Arg)
c.398C>A
c.1308C>A (p.Ser436Arg)
c.1212C>A (p.Ser404Arg)
c.819C>A (p.Ser273Arg)
c.1215C>A (p.Ser405Arg)
c.246C>A (p.Ser82Arg)
 gnomAD v4
20g.63415091C>ACA409646790KCNQ2c.1283G>T (p.Ser428Ile)
c.1337G>T (p.Ser446Ile)
c.734G>T (p.Ser245Ile)
n.75-1G>T
c.1248-1G>T (n.1248-1G>T)
c.906-1G>T (n.906-1G>T)
c.1253G>T (p.Ser418Ile)
c.1218-1G>T (n.1218-1G>T)
c.397G>T
c.1307G>T (p.Ser436Ile)
c.1211G>T (p.Ser404Ile)
c.818G>T (p.Ser273Ile)
c.1214G>T (p.Ser405Ile)
c.245G>T (p.Ser82Ile)
 gnomAD v4
20g.63415091C>GCA409646791KCNQ2c.1283G>C (p.Ser428Thr)
c.1337G>C (p.Ser446Thr)
c.734G>C (p.Ser245Thr)
n.75-1G>C
c.1248-1G>C (n.1248-1G>C)
c.906-1G>C (n.906-1G>C)
c.1253G>C (p.Ser418Thr)
c.1218-1G>C (n.1218-1G>C)
c.397G>C
c.1307G>C (p.Ser436Thr)
c.1211G>C (p.Ser404Thr)
c.818G>C (p.Ser273Thr)
c.1214G>C (p.Ser405Thr)
c.245G>C (p.Ser82Thr)
20g.63415091C>TCA409646792KCNQ2c.1283G>A (p.Ser428Asn)
c.1337G>A (p.Ser446Asn)
c.734G>A (p.Ser245Asn)
n.75-1G>A
c.1248-1G>A (n.1248-1G>A)
c.906-1G>A (n.906-1G>A)
c.1253G>A (p.Ser418Asn)
c.1218-1G>A (n.1218-1G>A)
c.397G>A
c.1307G>A (p.Ser436Asn)
c.1211G>A (p.Ser404Asn)
c.818G>A (p.Ser273Asn)
c.1214G>A (p.Ser405Asn)
c.245G>A (p.Ser82Asn)
20g.63415092T>ACA409646793KCNQ2c.1282A>T (p.Ser428Cys)
c.1336A>T (p.Ser446Cys)
c.733A>T (p.Ser245Cys)
n.75-2A>T
c.1248-2A>T (n.1248-2A>T)
c.906-2A>T (n.906-2A>T)
c.1252A>T (p.Ser418Cys)
c.1218-2A>T (n.1218-2A>T)
c.396A>T
c.1306A>T (p.Ser436Cys)
c.1210A>T (p.Ser404Cys)
c.817A>T (p.Ser273Cys)
c.1213A>T (p.Ser405Cys)
c.244A>T (p.Ser82Cys)
20g.63415092T>CCA409646794KCNQ2c.1282A>G (p.Ser428Gly)
c.1336A>G (p.Ser446Gly)
c.733A>G (p.Ser245Gly)
n.75-2A>G
c.1248-2A>G (n.1248-2A>G)
c.906-2A>G (n.906-2A>G)
c.1252A>G (p.Ser418Gly)
c.1218-2A>G (n.1218-2A>G)
c.396A>G
c.1306A>G (p.Ser436Gly)
c.1210A>G (p.Ser404Gly)
c.817A>G (p.Ser273Gly)
c.1213A>G (p.Ser405Gly)
c.244A>G (p.Ser82Gly)
20g.63415092T>GCA409646795KCNQ2c.1282A>C (p.Ser428Arg)
c.1336A>C (p.Ser446Arg)
c.733A>C (p.Ser245Arg)
n.75-2A>C
c.1248-2A>C (n.1248-2A>C)
c.906-2A>C (n.906-2A>C)
c.1252A>C (p.Ser418Arg)
c.1218-2A>C (n.1218-2A>C)
c.396A>C
c.1306A>C (p.Ser436Arg)
c.1210A>C (p.Ser404Arg)
c.817A>C (p.Ser273Arg)
c.1213A>C (p.Ser405Arg)
c.244A>C (p.Ser82Arg)
20g.63415093G>ACA511339595KCNQ2c.1281C>T (p.Ser427=)
c.1335C>T (p.Ser445=)
c.732C>T (p.Ser244=)
n.75-3C>T
c.1248-3C>T (n.1248-3C>T)
c.906-3C>T (n.906-3C>T)
c.1251C>T (p.Ser417=)
c.1218-3C>T (n.1218-3C>T)
c.395C>T
c.1305C>T (p.Ser435=)
c.1209C>T (p.Ser403=)
c.816C>T (p.Ser272=)
c.1212C>T (p.Ser404=)
c.243C>T (p.Ser81=)
 ClinVar dbSNP gnomAD v2
20g.63415093G>CCA511339596KCNQ2c.1281C>G (p.Ser427=)
c.1335C>G (p.Ser445=)
c.732C>G (p.Ser244=)
n.75-3C>G
c.1248-3C>G (n.1248-3C>G)
c.906-3C>G (n.906-3C>G)
c.1251C>G (p.Ser417=)
c.1218-3C>G (n.1218-3C>G)
c.395C>G
c.1305C>G (p.Ser435=)
c.1209C>G (p.Ser403=)
c.816C>G (p.Ser272=)
c.1212C>G (p.Ser404=)
c.243C>G (p.Ser81=)
20g.63415093G=CA2374778853KCNQ2c.1281C= (p.Ser427=)
c.1335C= (p.Ser445=)
c.732C= (p.Ser244=)
n.75-3C=
c.1248-3C= (n.1248-3C=)
c.906-3C= (n.906-3C=)
c.1251C= (p.Ser417=)
c.1218-3C= (n.1218-3C=)
c.395C=
c.1305C= (p.Ser435=)
c.1209C= (p.Ser403=)
c.816C= (p.Ser272=)
c.1212C= (p.Ser404=)
c.243C= (p.Ser81=)
20g.63415093G>TCA511339597KCNQ2c.1281C>A (p.Ser427=)
c.1335C>A (p.Ser445=)
c.732C>A (p.Ser244=)
n.75-3C>A
c.1248-3C>A (n.1248-3C>A)
c.906-3C>A (n.906-3C>A)
c.1251C>A (p.Ser417=)
c.1218-3C>A (n.1218-3C>A)
c.395C>A
c.1305C>A (p.Ser435=)
c.1209C>A (p.Ser403=)
c.816C>A (p.Ser272=)
c.1212C>A (p.Ser404=)
c.243C>A (p.Ser81=)
 gnomAD v4
20g.63415094_63415096delCA2653800739KCNQ2c.1279_1281del (p.Ser427del)
c.1333_1335del (p.Ser445del)
c.730_732del (p.Ser244del)
n.75-5_75-3del
c.1248-5_1248-3del (n.1248-5_1248-3del)
c.906-5_906-3del (n.906-5_906-3del)
c.1249_1251del (p.Ser417del)
c.1218-5_1218-3del (n.1218-5_1218-3del)
c.393_395del
c.1303_1305del (p.Ser435del)
c.1207_1209del (p.Ser403del)
c.814_816del (p.Ser272del)
c.1210_1212del (p.Ser404del)
c.241_243del (p.Ser81del)
 gnomAD v4
20g.63415094G>ACA409646796KCNQ2c.1280C>T (p.Ser427Phe)
c.1334C>T (p.Ser445Phe)
c.731C>T (p.Ser244Phe)
n.75-4C>T
c.1248-4C>T (n.1248-4C>T)
c.906-4C>T (n.906-4C>T)
c.1250C>T (p.Ser417Phe)
c.1218-4C>T (n.1218-4C>T)
c.394C>T
c.1304C>T (p.Ser435Phe)
c.1208C>T (p.Ser403Phe)
c.815C>T (p.Ser272Phe)
c.1211C>T (p.Ser404Phe)
c.242C>T (p.Ser81Phe)
 dbSNP gnomAD v4
20g.63415094G>CCA409646797KCNQ2c.1280C>G (p.Ser427Cys)
c.1334C>G (p.Ser445Cys)
c.731C>G (p.Ser244Cys)
n.75-4C>G
c.1248-4C>G (n.1248-4C>G)
c.906-4C>G (n.906-4C>G)
c.1250C>G (p.Ser417Cys)
c.1218-4C>G (n.1218-4C>G)
c.394C>G
c.1304C>G (p.Ser435Cys)
c.1208C>G (p.Ser403Cys)
c.815C>G (p.Ser272Cys)
c.1211C>G (p.Ser404Cys)
c.242C>G (p.Ser81Cys)
 dbSNP
20g.63415094G=CA2374778854KCNQ2c.1280C= (p.Ser427=)
c.1334C= (p.Ser445=)
c.731C= (p.Ser244=)
n.75-4C=
c.1248-4C= (n.1248-4C=)
c.906-4C= (n.906-4C=)
c.1250C= (p.Ser417=)
c.1218-4C= (n.1218-4C=)
c.394C=
c.1304C= (p.Ser435=)
c.1208C= (p.Ser403=)
c.815C= (p.Ser272=)
c.1211C= (p.Ser404=)
c.242C= (p.Ser81=)
20g.63415094G>TCA409646798KCNQ2c.1280C>A (p.Ser427Tyr)
c.1334C>A (p.Ser445Tyr)
c.731C>A (p.Ser244Tyr)
n.75-4C>A
c.1248-4C>A (n.1248-4C>A)
c.906-4C>A (n.906-4C>A)
c.1250C>A (p.Ser417Tyr)
c.1218-4C>A (n.1218-4C>A)
c.394C>A
c.1304C>A (p.Ser435Tyr)
c.1208C>A (p.Ser403Tyr)
c.815C>A (p.Ser272Tyr)
c.1211C>A (p.Ser404Tyr)
c.242C>A (p.Ser81Tyr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63415095A=CA2374778855KCNQ2c.1279T= (p.Ser427=)
c.1333T= (p.Ser445=)
c.730T= (p.Ser244=)
n.75-5T=
c.1248-5T= (n.1248-5T=)
c.906-5T= (n.906-5T=)
c.1249T= (p.Ser417=)
c.1218-5T= (n.1218-5T=)
c.393T=
c.1303T= (p.Ser435=)
c.1207T= (p.Ser403=)
c.814T= (p.Ser272=)
c.1210T= (p.Ser404=)
c.241T= (p.Ser81=)
20g.63415095A>CCA409646799KCNQ2c.1279T>G (p.Ser427Ala)
c.1333T>G (p.Ser445Ala)
c.730T>G (p.Ser244Ala)
n.75-5T>G
c.1248-5T>G (n.1248-5T>G)
c.906-5T>G (n.906-5T>G)
c.1249T>G (p.Ser417Ala)
c.1218-5T>G (n.1218-5T>G)
c.393T>G
c.1303T>G (p.Ser435Ala)
c.1207T>G (p.Ser403Ala)
c.814T>G (p.Ser272Ala)
c.1210T>G (p.Ser404Ala)
c.241T>G (p.Ser81Ala)
20g.63415095A>GCA409646800KCNQ2c.1279T>C (p.Ser427Pro)
c.1333T>C (p.Ser445Pro)
c.730T>C (p.Ser244Pro)
n.75-5T>C
c.1248-5T>C (n.1248-5T>C)
c.906-5T>C (n.906-5T>C)
c.1249T>C (p.Ser417Pro)
c.1218-5T>C (n.1218-5T>C)
c.393T>C
c.1303T>C (p.Ser435Pro)
c.1207T>C (p.Ser403Pro)
c.814T>C (p.Ser272Pro)
c.1210T>C (p.Ser404Pro)
c.241T>C (p.Ser81Pro)
 ClinVar dbSNP gnomAD v4
20g.63415095A>TCA409646802KCNQ2c.1279T>A (p.Ser427Thr)
c.1333T>A (p.Ser445Thr)
c.730T>A (p.Ser244Thr)
n.75-5T>A
c.1248-5T>A (n.1248-5T>A)
c.906-5T>A (n.906-5T>A)
c.1249T>A (p.Ser417Thr)
c.1218-5T>A (n.1218-5T>A)
c.393T>A
c.1303T>A (p.Ser435Thr)
c.1207T>A (p.Ser403Thr)
c.814T>A (p.Ser272Thr)
c.1210T>A (p.Ser404Thr)
c.241T>A (p.Ser81Thr)
20g.63415096G>ACA511339599KCNQ2c.1278C>T (p.Phe426=)
c.1332C>T (p.Phe444=)
c.729C>T (p.Phe243=)
n.75-6C>T
c.1248-6C>T (n.1248-6C>T)
c.906-6C>T (n.906-6C>T)
c.1248C>T (p.Phe416=)
c.1218-6C>T (n.1218-6C>T)
c.392C>T
c.1302C>T (p.Phe434=)
c.1206C>T (p.Phe402=)
c.813C>T (p.Phe271=)
c.1209C>T (p.Phe403=)
c.240C>T (p.Phe80=)
20g.63415096G>CCA409646807KCNQ2c.1278C>G (p.Phe426Leu)
c.1332C>G (p.Phe444Leu)
c.729C>G (p.Phe243Leu)
n.75-6C>G
c.1248-6C>G (n.1248-6C>G)
c.906-6C>G (n.906-6C>G)
c.1248C>G (p.Phe416Leu)
c.1218-6C>G (n.1218-6C>G)
c.392C>G
c.1302C>G (p.Phe434Leu)
c.1206C>G (p.Phe402Leu)
c.813C>G (p.Phe271Leu)
c.1209C>G (p.Phe403Leu)
c.240C>G (p.Phe80Leu)
20g.63415096G>TCA409646804KCNQ2c.1278C>A (p.Phe426Leu)
c.1332C>A (p.Phe444Leu)
c.729C>A (p.Phe243Leu)
n.75-6C>A
c.1248-6C>A (n.1248-6C>A)
c.906-6C>A (n.906-6C>A)
c.1248C>A (p.Phe416Leu)
c.1218-6C>A (n.1218-6C>A)
c.392C>A
c.1302C>A (p.Phe434Leu)
c.1206C>A (p.Phe402Leu)
c.813C>A (p.Phe271Leu)
c.1209C>A (p.Phe403Leu)
c.240C>A (p.Phe80Leu)
 gnomAD v4
20g.63415097A>CCA409646809KCNQ2c.1277T>G (p.Phe426Cys)
c.1331T>G (p.Phe444Cys)
c.728T>G (p.Phe243Cys)
n.75-7T>G
c.1248-7T>G (n.1248-7T>G)
c.906-7T>G (n.906-7T>G)
c.1247T>G (p.Phe416Cys)
c.1218-7T>G (n.1218-7T>G)
c.391T>G
c.1301T>G (p.Phe434Cys)
c.1205T>G (p.Phe402Cys)
c.812T>G (p.Phe271Cys)
c.1208T>G (p.Phe403Cys)
c.239T>G (p.Phe80Cys)
20g.63415097A>GCA409646810KCNQ2c.1277T>C (p.Phe426Ser)
c.1331T>C (p.Phe444Ser)
c.728T>C (p.Phe243Ser)
n.75-7T>C
c.1248-7T>C (n.1248-7T>C)
c.906-7T>C (n.906-7T>C)
c.1247T>C (p.Phe416Ser)
c.1218-7T>C (n.1218-7T>C)
c.391T>C
c.1301T>C (p.Phe434Ser)
c.1205T>C (p.Phe402Ser)
c.812T>C (p.Phe271Ser)
c.1208T>C (p.Phe403Ser)
c.239T>C (p.Phe80Ser)
20g.63415097A>TCA409646813KCNQ2c.1277T>A (p.Phe426Tyr)
c.1331T>A (p.Phe444Tyr)
c.728T>A (p.Phe243Tyr)
n.75-7T>A
c.1248-7T>A (n.1248-7T>A)
c.906-7T>A (n.906-7T>A)
c.1247T>A (p.Phe416Tyr)
c.1218-7T>A (n.1218-7T>A)
c.391T>A
c.1301T>A (p.Phe434Tyr)
c.1205T>A (p.Phe402Tyr)
c.812T>A (p.Phe271Tyr)
c.1208T>A (p.Phe403Tyr)
c.239T>A (p.Phe80Tyr)
20g.63415098A>CCA409646816KCNQ2c.1276T>G (p.Phe426Val)
c.1330T>G (p.Phe444Val)
c.727T>G (p.Phe243Val)
n.75-8T>G
c.1248-8T>G (n.1248-8T>G)
c.906-8T>G (n.906-8T>G)
c.1246T>G (p.Phe416Val)
c.1218-8T>G (n.1218-8T>G)
c.390T>G
c.1300T>G (p.Phe434Val)
c.1204T>G (p.Phe402Val)
c.811T>G (p.Phe271Val)
c.1207T>G (p.Phe403Val)
c.238T>G (p.Phe80Val)
20g.63415098A>GCA409646823KCNQ2c.1276T>C (p.Phe426Leu)
c.1330T>C (p.Phe444Leu)
c.727T>C (p.Phe243Leu)
n.75-8T>C
c.1248-8T>C (n.1248-8T>C)
c.906-8T>C (n.906-8T>C)
c.1246T>C (p.Phe416Leu)
c.1218-8T>C (n.1218-8T>C)
c.390T>C
c.1300T>C (p.Phe434Leu)
c.1204T>C (p.Phe402Leu)
c.811T>C (p.Phe271Leu)
c.1207T>C (p.Phe403Leu)
c.238T>C (p.Phe80Leu)
20g.63415098A>TCA409646826KCNQ2c.1276T>A (p.Phe426Ile)
c.1330T>A (p.Phe444Ile)
c.727T>A (p.Phe243Ile)
n.75-8T>A
c.1248-8T>A (n.1248-8T>A)
c.906-8T>A (n.906-8T>A)
c.1246T>A (p.Phe416Ile)
c.1218-8T>A (n.1218-8T>A)
c.390T>A
c.1300T>A (p.Phe434Ile)
c.1204T>A (p.Phe402Ile)
c.811T>A (p.Phe271Ile)
c.1207T>A (p.Phe403Ile)
c.238T>A (p.Phe80Ile)
20g.63415099G>ACA511339603KCNQ2c.1275C>T (p.Val425=)
c.1329C>T (p.Val443=)
c.726C>T (p.Val242=)
n.75-9C>T
c.1248-9C>T (n.1248-9C>T)
c.906-9C>T (n.906-9C>T)
c.1245C>T (p.Val415=)
c.1218-9C>T (n.1218-9C>T)
c.389C>T
c.1299C>T (p.Val433=)
c.1203C>T (p.Val401=)
c.810C>T (p.Val270=)
c.1206C>T (p.Val402=)
c.237C>T (p.Val79=)
20g.63415099G>CCA16608505KCNQ2c.1275C>G (p.Val425=)
c.1329C>G (p.Val443=)
c.726C>G (p.Val242=)
n.75-9C>G
c.1248-9C>G (n.1248-9C>G)
c.906-9C>G (n.906-9C>G)
c.1245C>G (p.Val415=)
c.1218-9C>G (n.1218-9C>G)
c.389C>G
c.1299C>G (p.Val433=)
c.1203C>G (p.Val401=)
c.810C>G (p.Val270=)
c.1206C>G (p.Val402=)
c.237C>G (p.Val79=)
 ClinVar dbSNP gnomAD v4
20g.63415099G=CA2374778856KCNQ2c.1275C= (p.Val425=)
c.1329C= (p.Val443=)
c.726C= (p.Val242=)
n.75-9C=
c.1248-9C= (n.1248-9C=)
c.906-9C= (n.906-9C=)
c.1245C= (p.Val415=)
c.1218-9C= (n.1218-9C=)
c.389C=
c.1299C= (p.Val433=)
c.1203C= (p.Val401=)
c.810C= (p.Val270=)
c.1206C= (p.Val402=)
c.237C= (p.Val79=)
20g.63415099G>TCA511339607KCNQ2c.1275C>A (p.Val425=)
c.1329C>A (p.Val443=)
c.726C>A (p.Val242=)
n.75-9C>A
c.1248-9C>A (n.1248-9C>A)
c.906-9C>A (n.906-9C>A)
c.1245C>A (p.Val415=)
c.1218-9C>A (n.1218-9C>A)
c.389C>A
c.1299C>A (p.Val433=)
c.1203C>A (p.Val401=)
c.810C>A (p.Val270=)
c.1206C>A (p.Val402=)
c.237C>A (p.Val79=)
 gnomAD v4
20g.63415100A>CCA409646828KCNQ2c.1274T>G (p.Val425Gly)
c.1328T>G (p.Val443Gly)
c.725T>G (p.Val242Gly)
n.75-10T>G
c.1248-10T>G (n.1248-10T>G)
c.906-10T>G (n.906-10T>G)
c.1244T>G (p.Val415Gly)
c.1218-10T>G (n.1218-10T>G)
c.388T>G
c.1298T>G (p.Val433Gly)
c.1202T>G (p.Val401Gly)
c.809T>G (p.Val270Gly)
c.1205T>G (p.Val402Gly)
c.236T>G (p.Val79Gly)
20g.63415100A>GCA409646829KCNQ2c.1274T>C (p.Val425Ala)
c.1328T>C (p.Val443Ala)
c.725T>C (p.Val242Ala)
n.75-10T>C
c.1248-10T>C (n.1248-10T>C)
c.906-10T>C (n.906-10T>C)
c.1244T>C (p.Val415Ala)
c.1218-10T>C (n.1218-10T>C)
c.388T>C
c.1298T>C (p.Val433Ala)
c.1202T>C (p.Val401Ala)
c.809T>C (p.Val270Ala)
c.1205T>C (p.Val402Ala)
c.236T>C (p.Val79Ala)
20g.63415100A>TCA409646831KCNQ2c.1274T>A (p.Val425Asp)
c.1328T>A (p.Val443Asp)
c.725T>A (p.Val242Asp)
n.75-10T>A
c.1248-10T>A (n.1248-10T>A)
c.906-10T>A (n.906-10T>A)
c.1244T>A (p.Val415Asp)
c.1218-10T>A (n.1218-10T>A)
c.388T>A
c.1298T>A (p.Val433Asp)
c.1202T>A (p.Val401Asp)
c.809T>A (p.Val270Asp)
c.1205T>A (p.Val402Asp)
c.236T>A (p.Val79Asp)
20g.63415101C>ACA409646834KCNQ2c.1273G>T (p.Val425Phe)
c.1327G>T (p.Val443Phe)
c.724G>T (p.Val242Phe)
n.75-11G>T
c.1248-11G>T (n.1248-11G>T)
c.906-11G>T (n.906-11G>T)
c.1243G>T (p.Val415Phe)
c.1218-11G>T (n.1218-11G>T)
c.387G>T
c.1297G>T (p.Val433Phe)
c.1201G>T (p.Val401Phe)
c.808G>T (p.Val270Phe)
c.1204G>T (p.Val402Phe)
c.235G>T (p.Val79Phe)
20g.63415101C=CA2374778857KCNQ2c.1273G= (p.Val425=)
c.1327G= (p.Val443=)
c.724G= (p.Val242=)
n.75-11G=
c.1248-11G= (n.1248-11G=)
c.906-11G= (n.906-11G=)
c.1243G= (p.Val415=)
c.1218-11G= (n.1218-11G=)
c.387G=
c.1297G= (p.Val433=)
c.1201G= (p.Val401=)
c.808G= (p.Val270=)
c.1204G= (p.Val402=)
c.235G= (p.Val79=)
20g.63415101C>GCA409646835KCNQ2c.1273G>C (p.Val425Leu)
c.1327G>C (p.Val443Leu)
c.724G>C (p.Val242Leu)
n.75-11G>C
c.1248-11G>C (n.1248-11G>C)
c.906-11G>C (n.906-11G>C)
c.1243G>C (p.Val415Leu)
c.1218-11G>C (n.1218-11G>C)
c.387G>C
c.1297G>C (p.Val433Leu)
c.1201G>C (p.Val401Leu)
c.808G>C (p.Val270Leu)
c.1204G>C (p.Val402Leu)
c.235G>C (p.Val79Leu)
20g.63415101C>TCA409646837KCNQ2c.1273G>A (p.Val425Ile)
c.1327G>A (p.Val443Ile)
c.724G>A (p.Val242Ile)
n.75-11G>A
c.1248-11G>A (n.1248-11G>A)
c.906-11G>A (n.906-11G>A)
c.1243G>A (p.Val415Ile)
c.1218-11G>A (n.1218-11G>A)
c.387G>A
c.1297G>A (p.Val433Ile)
c.1201G>A (p.Val401Ile)
c.808G>A (p.Val270Ile)
c.1204G>A (p.Val402Ile)
c.235G>A (p.Val79Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.63415102A>CCA511339608KCNQ2c.1272T>G (p.Arg424=)
c.1326T>G (p.Arg442=)
c.723T>G (p.Arg241=)
n.75-12T>G
c.1248-12T>G (n.1248-12T>G)
c.906-12T>G (n.906-12T>G)
c.1242T>G (p.Arg414=)
c.1218-12T>G (n.1218-12T>G)
c.386T>G
c.1296T>G (p.Arg432=)
c.1200T>G (p.Arg400=)
c.807T>G (p.Arg269=)
c.1203T>G (p.Arg401=)
c.234T>G (p.Arg78=)
20g.63415102A>GCA511339610KCNQ2c.1272T>C (p.Arg424=)
c.1326T>C (p.Arg442=)
c.723T>C (p.Arg241=)
n.75-12T>C
c.1248-12T>C (n.1248-12T>C)
c.906-12T>C (n.906-12T>C)
c.1242T>C (p.Arg414=)
c.1218-12T>C (n.1218-12T>C)
c.386T>C
c.1296T>C (p.Arg432=)
c.1200T>C (p.Arg400=)
c.807T>C (p.Arg269=)
c.1203T>C (p.Arg401=)
c.234T>C (p.Arg78=)
20g.63415102A>TCA511339611KCNQ2c.1272T>A (p.Arg424=)
c.1326T>A (p.Arg442=)
c.723T>A (p.Arg241=)
n.75-12T>A
c.1248-12T>A (n.1248-12T>A)
c.906-12T>A (n.906-12T>A)
c.1242T>A (p.Arg414=)
c.1218-12T>A (n.1218-12T>A)
c.386T>A
c.1296T>A (p.Arg432=)
c.1200T>A (p.Arg400=)
c.807T>A (p.Arg269=)
c.1203T>A (p.Arg401=)
c.234T>A (p.Arg78=)
20g.63415103C>ACA409646844KCNQ2c.1271G>T (p.Arg424Leu)
c.1325G>T (p.Arg442Leu)
c.722G>T (p.Arg241Leu)
n.75-13G>T
c.1248-13G>T (n.1248-13G>T)
c.906-13G>T (n.906-13G>T)
c.1241G>T (p.Arg414Leu)
c.1218-13G>T (n.1218-13G>T)
c.385G>T
c.1295G>T (p.Arg432Leu)
c.1199G>T (p.Arg400Leu)
c.806G>T (p.Arg269Leu)
c.1202G>T (p.Arg401Leu)
c.233G>T (p.Arg78Leu)
20g.63415103C=CA2374778858KCNQ2c.1271G= (p.Arg424=)
c.1325G= (p.Arg442=)
c.722G= (p.Arg241=)
n.75-13G=
c.1248-13G= (n.1248-13G=)
c.906-13G= (n.906-13G=)
c.1241G= (p.Arg414=)
c.1218-13G= (n.1218-13G=)
c.385G=
c.1295G= (p.Arg432=)
c.1199G= (p.Arg400=)
c.806G= (p.Arg269=)
c.1202G= (p.Arg401=)
c.233G= (p.Arg78=)
20g.63415103C>GCA409646843KCNQ2c.1271G>C (p.Arg424Pro)
c.1325G>C (p.Arg442Pro)
c.722G>C (p.Arg241Pro)
n.75-13G>C
c.1248-13G>C (n.1248-13G>C)
c.906-13G>C (n.906-13G>C)
c.1241G>C (p.Arg414Pro)
c.1218-13G>C (n.1218-13G>C)
c.385G>C
c.1295G>C (p.Arg432Pro)
c.1199G>C (p.Arg400Pro)
c.806G>C (p.Arg269Pro)
c.1202G>C (p.Arg401Pro)
c.233G>C (p.Arg78Pro)
20g.63415103C>TCA409646840KCNQ2c.1271G>A (p.Arg424His)
c.1325G>A (p.Arg442His)
c.722G>A (p.Arg241His)
n.75-13G>A
c.1248-13G>A (n.1248-13G>A)
c.906-13G>A (n.906-13G>A)
c.1241G>A (p.Arg414His)
c.1218-13G>A (n.1218-13G>A)
c.385G>A
c.1295G>A (p.Arg432His)
c.1199G>A (p.Arg400His)
c.806G>A (p.Arg269His)
c.1202G>A (p.Arg401His)
c.233G>A (p.Arg78His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415104G>ACA409646846KCNQ2c.1270C>T (p.Arg424Cys)
c.1324C>T (p.Arg442Cys)
c.721C>T (p.Arg241Cys)
n.75-14C>T
c.1248-14C>T (n.1248-14C>T)
c.906-14C>T (n.906-14C>T)
c.1240C>T (p.Arg414Cys)
c.1218-14C>T (n.1218-14C>T)
c.384C>T
c.1294C>T (p.Arg432Cys)
c.1198C>T (p.Arg400Cys)
c.805C>T (p.Arg269Cys)
c.1201C>T (p.Arg401Cys)
c.232C>T (p.Arg78Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415104G>CCA409646852KCNQ2c.1270C>G (p.Arg424Gly)
c.1324C>G (p.Arg442Gly)
c.721C>G (p.Arg241Gly)
n.75-14C>G
c.1248-14C>G (n.1248-14C>G)
c.906-14C>G (n.906-14C>G)
c.1240C>G (p.Arg414Gly)
c.1218-14C>G (n.1218-14C>G)
c.384C>G
c.1294C>G (p.Arg432Gly)
c.1198C>G (p.Arg400Gly)
c.805C>G (p.Arg269Gly)
c.1201C>G (p.Arg401Gly)
c.232C>G (p.Arg78Gly)
20g.63415104G=CA2374778859KCNQ2c.1270C= (p.Arg424=)
c.1324C= (p.Arg442=)
c.721C= (p.Arg241=)
n.75-14C=
c.1248-14C= (n.1248-14C=)
c.906-14C= (n.906-14C=)
c.1240C= (p.Arg414=)
c.1218-14C= (n.1218-14C=)
c.384C=
c.1294C= (p.Arg432=)
c.1198C= (p.Arg400=)
c.805C= (p.Arg269=)
c.1201C= (p.Arg401=)
c.232C= (p.Arg78=)
20g.63415104G>TCA409646849KCNQ2c.1270C>A (p.Arg424Ser)
c.1324C>A (p.Arg442Ser)
c.721C>A (p.Arg241Ser)
n.75-14C>A
c.1248-14C>A (n.1248-14C>A)
c.906-14C>A (n.906-14C>A)
c.1240C>A (p.Arg414Ser)
c.1218-14C>A (n.1218-14C>A)
c.384C>A
c.1294C>A (p.Arg432Ser)
c.1198C>A (p.Arg400Ser)
c.805C>A (p.Arg269Ser)
c.1201C>A (p.Arg401Ser)
c.232C>A (p.Arg78Ser)
20g.63415105A>CCA409646855KCNQ2c.1269T>G (p.Asp423Glu)
c.1323T>G (p.Asp441Glu)
c.720T>G (p.Asp240Glu)
n.75-15T>G
c.1248-15T>G (n.1248-15T>G)
c.906-15T>G (n.906-15T>G)
c.1239T>G (p.Asp413Glu)
c.1218-15T>G (n.1218-15T>G)
c.383T>G
c.1293T>G (p.Asp431Glu)
c.1197T>G (p.Asp399Glu)
c.804T>G (p.Asp268Glu)
c.1200T>G (p.Asp400Glu)
c.231T>G (p.Asp77Glu)
 gnomAD v4
20g.63415105A>GCA511339617KCNQ2c.1269T>C (p.Asp423=)
c.1323T>C (p.Asp441=)
c.720T>C (p.Asp240=)
n.75-15T>C
c.1248-15T>C (n.1248-15T>C)
c.906-15T>C (n.906-15T>C)
c.1239T>C (p.Asp413=)
c.1218-15T>C (n.1218-15T>C)
c.383T>C
c.1293T>C (p.Asp431=)
c.1197T>C (p.Asp399=)
c.804T>C (p.Asp268=)
c.1200T>C (p.Asp400=)
c.231T>C (p.Asp77=)
 gnomAD v4
20g.63415105A>TCA409646857KCNQ2c.1269T>A (p.Asp423Glu)
c.1323T>A (p.Asp441Glu)
c.720T>A (p.Asp240Glu)
n.75-15T>A
c.1248-15T>A (n.1248-15T>A)
c.906-15T>A (n.906-15T>A)
c.1239T>A (p.Asp413Glu)
c.1218-15T>A (n.1218-15T>A)
c.383T>A
c.1293T>A (p.Asp431Glu)
c.1197T>A (p.Asp399Glu)
c.804T>A (p.Asp268Glu)
c.1200T>A (p.Asp400Glu)
c.231T>A (p.Asp77Glu)
20g.63415106T>ACA409646861KCNQ2c.1268A>T (p.Asp423Val)
c.1322A>T (p.Asp441Val)
c.719A>T (p.Asp240Val)
n.75-16A>T
c.1248-16A>T (n.1248-16A>T)
c.906-16A>T (n.906-16A>T)
c.1238A>T (p.Asp413Val)
c.1218-16A>T (n.1218-16A>T)
c.382A>T
c.1292A>T (p.Asp431Val)
c.1196A>T (p.Asp399Val)
c.803A>T (p.Asp268Val)
c.1199A>T (p.Asp400Val)
c.230A>T (p.Asp77Val)
20g.63415106T>CCA9958472KCNQ2c.1268A>G (p.Asp423Gly)
c.1322A>G (p.Asp441Gly)
c.719A>G (p.Asp240Gly)
n.75-16A>G
c.1248-16A>G (n.1248-16A>G)
c.906-16A>G (n.906-16A>G)
c.1238A>G (p.Asp413Gly)
c.1218-16A>G (n.1218-16A>G)
c.382A>G
c.1292A>G (p.Asp431Gly)
c.1196A>G (p.Asp399Gly)
c.803A>G (p.Asp268Gly)
c.1199A>G (p.Asp400Gly)
c.230A>G (p.Asp77Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415106T>GCA409646865KCNQ2c.1268A>C (p.Asp423Ala)
c.1322A>C (p.Asp441Ala)
c.719A>C (p.Asp240Ala)
n.75-16A>C
c.1248-16A>C (n.1248-16A>C)
c.906-16A>C (n.906-16A>C)
c.1238A>C (p.Asp413Ala)
c.1218-16A>C (n.1218-16A>C)
c.382A>C
c.1292A>C (p.Asp431Ala)
c.1196A>C (p.Asp399Ala)
c.803A>C (p.Asp268Ala)
c.1199A>C (p.Asp400Ala)
c.230A>C (p.Asp77Ala)
20g.63415106T=CA2374778860KCNQ2c.1268A= (p.Asp423=)
c.1322A= (p.Asp441=)
c.719A= (p.Asp240=)
n.75-16A=
c.1248-16A= (n.1248-16A=)
c.906-16A= (n.906-16A=)
c.1238A= (p.Asp413=)
c.1218-16A= (n.1218-16A=)
c.382A=
c.1292A= (p.Asp431=)
c.1196A= (p.Asp399=)
c.803A= (p.Asp268=)
c.1199A= (p.Asp400=)
c.230A= (p.Asp77=)
20g.63415107C>ACA409646868KCNQ2c.1267G>T (p.Asp423Tyr)
c.1321G>T (p.Asp441Tyr)
c.718G>T (p.Asp240Tyr)
n.75-17G>T
c.1248-17G>T (n.1248-17G>T)
c.906-17G>T (n.906-17G>T)
c.1237G>T (p.Asp413Tyr)
c.1218-17G>T (n.1218-17G>T)
c.381G>T
c.1291G>T (p.Asp431Tyr)
c.1195G>T (p.Asp399Tyr)
c.802G>T (p.Asp268Tyr)
c.1198G>T (p.Asp400Tyr)
c.229G>T (p.Asp77Tyr)
 gnomAD v4
20g.63415107C=CA2374778861KCNQ2c.1267G= (p.Asp423=)
c.1321G= (p.Asp441=)
c.718G= (p.Asp240=)
n.75-17G=
c.1248-17G= (n.1248-17G=)
c.906-17G= (n.906-17G=)
c.1237G= (p.Asp413=)
c.1218-17G= (n.1218-17G=)
c.381G=
c.1291G= (p.Asp431=)
c.1195G= (p.Asp399=)
c.802G= (p.Asp268=)
c.1198G= (p.Asp400=)
c.229G= (p.Asp77=)
20g.63415107C>GCA409646871KCNQ2c.1267G>C (p.Asp423His)
c.1321G>C (p.Asp441His)
c.718G>C (p.Asp240His)
n.75-17G>C
c.1248-17G>C (n.1248-17G>C)
c.906-17G>C (n.906-17G>C)
c.1237G>C (p.Asp413His)
c.1218-17G>C (n.1218-17G>C)
c.381G>C
c.1291G>C (p.Asp431His)
c.1195G>C (p.Asp399His)
c.802G>C (p.Asp268His)
c.1198G>C (p.Asp400His)
c.229G>C (p.Asp77His)
20g.63415107C>TCA9958473KCNQ2c.1267G>A (p.Asp423Asn)
c.1321G>A (p.Asp441Asn)
c.718G>A (p.Asp240Asn)
n.75-17G>A
c.1248-17G>A (n.1248-17G>A)
c.906-17G>A (n.906-17G>A)
c.1237G>A (p.Asp413Asn)
c.1218-17G>A (n.1218-17G>A)
c.381G>A
c.1291G>A (p.Asp431Asn)
c.1195G>A (p.Asp399Asn)
c.802G>A (p.Asp268Asn)
c.1198G>A (p.Asp400Asn)
c.229G>A (p.Asp77Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415108T>ACA409646873KCNQ2c.1266A>T (p.Lys422Asn)
c.1320A>T (p.Lys440Asn)
c.717A>T (p.Lys239Asn)
n.75-18A>T
c.1248-18A>T (n.1248-18A>T)
c.906-18A>T (n.906-18A>T)
c.1236A>T (p.Lys412Asn)
c.1218-18A>T (n.1218-18A>T)
c.380A>T
c.1290A>T (p.Lys430Asn)
c.1194A>T (p.Lys398Asn)
c.801A>T (p.Lys267Asn)
c.1197A>T (p.Lys399Asn)
c.228A>T (p.Lys76Asn)
20g.63415108T>CCA511339619KCNQ2c.1266A>G (p.Lys422=)
c.1320A>G (p.Lys440=)
c.717A>G (p.Lys239=)
n.75-18A>G
c.1248-18A>G (n.1248-18A>G)
c.906-18A>G (n.906-18A>G)
c.1236A>G (p.Lys412=)
c.1218-18A>G (n.1218-18A>G)
c.380A>G
c.1290A>G (p.Lys430=)
c.1194A>G (p.Lys398=)
c.801A>G (p.Lys267=)
c.1197A>G (p.Lys399=)
c.228A>G (p.Lys76=)
 ClinVar
20g.63415108T>GCA409646875KCNQ2c.1266A>C (p.Lys422Asn)
c.1320A>C (p.Lys440Asn)
c.717A>C (p.Lys239Asn)
n.75-18A>C
c.1248-18A>C (n.1248-18A>C)
c.906-18A>C (n.906-18A>C)
c.1236A>C (p.Lys412Asn)
c.1218-18A>C (n.1218-18A>C)
c.380A>C
c.1290A>C (p.Lys430Asn)
c.1194A>C (p.Lys398Asn)
c.801A>C (p.Lys267Asn)
c.1197A>C (p.Lys399Asn)
c.228A>C (p.Lys76Asn)
20g.63415109T>ACA409646877KCNQ2c.1265A>T (p.Lys422Ile)
c.1319A>T (p.Lys440Ile)
c.716A>T (p.Lys239Ile)
n.75-19A>T
c.1248-19A>T (n.1248-19A>T)
c.906-19A>T (n.906-19A>T)
c.1235A>T (p.Lys412Ile)
c.1218-19A>T (n.1218-19A>T)
c.379A>T
c.1289A>T (p.Lys430Ile)
c.1193A>T (p.Lys398Ile)
c.800A>T (p.Lys267Ile)
c.1196A>T (p.Lys399Ile)
c.227A>T (p.Lys76Ile)
20g.63415109T>CCA9958474KCNQ2c.1265A>G (p.Lys422Arg)
c.1319A>G (p.Lys440Arg)
c.716A>G (p.Lys239Arg)
n.75-19A>G
c.1248-19A>G (n.1248-19A>G)
c.906-19A>G (n.906-19A>G)
c.1235A>G (p.Lys412Arg)
c.1218-19A>G (n.1218-19A>G)
c.379A>G
c.1289A>G (p.Lys430Arg)
c.1193A>G (p.Lys398Arg)
c.800A>G (p.Lys267Arg)
c.1196A>G (p.Lys399Arg)
c.227A>G (p.Lys76Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415109T>GCA409646881KCNQ2c.1265A>C (p.Lys422Thr)
c.1319A>C (p.Lys440Thr)
c.716A>C (p.Lys239Thr)
n.75-19A>C
c.1248-19A>C (n.1248-19A>C)
c.906-19A>C (n.906-19A>C)
c.1235A>C (p.Lys412Thr)
c.1218-19A>C (n.1218-19A>C)
c.379A>C
c.1289A>C (p.Lys430Thr)
c.1193A>C (p.Lys398Thr)
c.800A>C (p.Lys267Thr)
c.1196A>C (p.Lys399Thr)
c.227A>C (p.Lys76Thr)
20g.63415109T=CA2374778862KCNQ2c.1265A= (p.Lys422=)
c.1319A= (p.Lys440=)
c.716A= (p.Lys239=)
n.75-19A=
c.1248-19A= (n.1248-19A=)
c.906-19A= (n.906-19A=)
c.1235A= (p.Lys412=)
c.1218-19A= (n.1218-19A=)
c.379A=
c.1289A= (p.Lys430=)
c.1193A= (p.Lys398=)
c.800A= (p.Lys267=)
c.1196A= (p.Lys399=)
c.227A= (p.Lys76=)
20g.63415110T>ACA409646885KCNQ2c.1264A>T (p.Lys422Ter)
c.1318A>T (p.Lys440Ter)
c.715A>T (p.Lys239Ter)
n.75-20A>T
c.1248-20A>T (n.1248-20A>T)
c.906-20A>T (n.906-20A>T)
c.1234A>T (p.Lys412Ter)
c.1218-20A>T (n.1218-20A>T)
c.378A>T
c.1288A>T (p.Lys430Ter)
c.1192A>T (p.Lys398Ter)
c.799A>T (p.Lys267Ter)
c.1195A>T (p.Lys399Ter)
c.226A>T (p.Lys76Ter)
20g.63415110T>CCA409646890KCNQ2c.1264A>G (p.Lys422Glu)
c.1318A>G (p.Lys440Glu)
c.715A>G (p.Lys239Glu)
n.75-20A>G
c.1248-20A>G (n.1248-20A>G)
c.906-20A>G (n.906-20A>G)
c.1234A>G (p.Lys412Glu)
c.1218-20A>G (n.1218-20A>G)
c.378A>G
c.1288A>G (p.Lys430Glu)
c.1192A>G (p.Lys398Glu)
c.799A>G (p.Lys267Glu)
c.1195A>G (p.Lys399Glu)
c.226A>G (p.Lys76Glu)
20g.63415110T>GCA409646887KCNQ2c.1264A>C (p.Lys422Gln)
c.1318A>C (p.Lys440Gln)
c.715A>C (p.Lys239Gln)
n.75-20A>C
c.1248-20A>C (n.1248-20A>C)
c.906-20A>C (n.906-20A>C)
c.1234A>C (p.Lys412Gln)
c.1218-20A>C (n.1218-20A>C)
c.378A>C
c.1288A>C (p.Lys430Gln)
c.1192A>C (p.Lys398Gln)
c.799A>C (p.Lys267Gln)
c.1195A>C (p.Lys399Gln)
c.226A>C (p.Lys76Gln)
20g.63415111C>ACA409646893KCNQ2c.1263G>T (p.Leu421Phe)
c.1317G>T (p.Leu439Phe)
c.714G>T (p.Leu238Phe)
n.75-21G>T
c.1248-21G>T (n.1248-21G>T)
c.906-21G>T (n.906-21G>T)
c.1233G>T (p.Leu411Phe)
c.1218-21G>T (n.1218-21G>T)
c.377G>T
c.1287G>T (p.Leu429Phe)
c.1191G>T (p.Leu397Phe)
c.798G>T (p.Leu266Phe)
c.1194G>T (p.Leu398Phe)
c.225G>T (p.Leu75Phe)
20g.63415111C>GCA409646895KCNQ2c.1263G>C (p.Leu421Phe)
c.1317G>C (p.Leu439Phe)
c.714G>C (p.Leu238Phe)
n.75-21G>C
c.1248-21G>C (n.1248-21G>C)
c.906-21G>C (n.906-21G>C)
c.1233G>C (p.Leu411Phe)
c.1218-21G>C (n.1218-21G>C)
c.377G>C
c.1287G>C (p.Leu429Phe)
c.1191G>C (p.Leu397Phe)
c.798G>C (p.Leu266Phe)
c.1194G>C (p.Leu398Phe)
c.225G>C (p.Leu75Phe)
20g.63415111C>TCA511339624KCNQ2c.1263G>A (p.Leu421=)
c.1317G>A (p.Leu439=)
c.714G>A (p.Leu238=)
n.75-21G>A
c.1248-21G>A (n.1248-21G>A)
c.906-21G>A (n.906-21G>A)
c.1233G>A (p.Leu411=)
c.1218-21G>A (n.1218-21G>A)
c.377G>A
c.1287G>A (p.Leu429=)
c.1191G>A (p.Leu397=)
c.798G>A (p.Leu266=)
c.1194G>A (p.Leu398=)
c.225G>A (p.Leu75=)
20g.63415112A>CCA409646896KCNQ2c.1262T>G (p.Leu421Trp)
c.1316T>G (p.Leu439Trp)
c.713T>G (p.Leu238Trp)
n.75-22T>G
c.1248-22T>G (n.1248-22T>G)
c.906-22T>G (n.906-22T>G)
c.1232T>G (p.Leu411Trp)
c.1218-22T>G (n.1218-22T>G)
c.376T>G
c.1286T>G (p.Leu429Trp)
c.1190T>G (p.Leu397Trp)
c.797T>G (p.Leu266Trp)
c.1193T>G (p.Leu398Trp)
c.224T>G (p.Leu75Trp)
20g.63415112A>GCA409646899KCNQ2c.1262T>C (p.Leu421Ser)
c.1316T>C (p.Leu439Ser)
c.713T>C (p.Leu238Ser)
n.75-22T>C
c.1248-22T>C (n.1248-22T>C)
c.906-22T>C (n.906-22T>C)
c.1232T>C (p.Leu411Ser)
c.1218-22T>C (n.1218-22T>C)
c.376T>C
c.1286T>C (p.Leu429Ser)
c.1190T>C (p.Leu397Ser)
c.797T>C (p.Leu266Ser)
c.1193T>C (p.Leu398Ser)
c.224T>C (p.Leu75Ser)
20g.63415112A>TCA409646902KCNQ2c.1262T>A (p.Leu421Ter)
c.1316T>A (p.Leu439Ter)
c.713T>A (p.Leu238Ter)
n.75-22T>A
c.1248-22T>A (n.1248-22T>A)
c.906-22T>A (n.906-22T>A)
c.1232T>A (p.Leu411Ter)
c.1218-22T>A (n.1218-22T>A)
c.376T>A
c.1286T>A (p.Leu429Ter)
c.1190T>A (p.Leu397Ter)
c.797T>A (p.Leu266Ter)
c.1193T>A (p.Leu398Ter)
c.224T>A (p.Leu75Ter)
20g.63415113A>CCA409646904KCNQ2c.1261T>G (p.Leu421Val)
c.1315T>G (p.Leu439Val)
c.712T>G (p.Leu238Val)
n.75-23T>G
c.1248-23T>G (n.1248-23T>G)
c.906-23T>G (n.906-23T>G)
c.1231T>G (p.Leu411Val)
c.1218-23T>G (n.1218-23T>G)
c.375T>G
c.1285T>G (p.Leu429Val)
c.1189T>G (p.Leu397Val)
c.796T>G (p.Leu266Val)
c.1192T>G (p.Leu398Val)
c.223T>G (p.Leu75Val)
 gnomAD v4
20g.63415113A>GCA511339631KCNQ2c.1261T>C (p.Leu421=)
c.1315T>C (p.Leu439=)
c.712T>C (p.Leu238=)
n.75-23T>C
c.1248-23T>C (n.1248-23T>C)
c.906-23T>C (n.906-23T>C)
c.1231T>C (p.Leu411=)
c.1218-23T>C (n.1218-23T>C)
c.375T>C
c.1285T>C (p.Leu429=)
c.1189T>C (p.Leu397=)
c.796T>C (p.Leu266=)
c.1192T>C (p.Leu398=)
c.223T>C (p.Leu75=)
20g.63415113A>TCA409646905KCNQ2c.1261T>A (p.Leu421Met)
c.1315T>A (p.Leu439Met)
c.712T>A (p.Leu238Met)
n.75-23T>A
c.1248-23T>A (n.1248-23T>A)
c.906-23T>A (n.906-23T>A)
c.1231T>A (p.Leu411Met)
c.1218-23T>A (n.1218-23T>A)
c.375T>A
c.1285T>A (p.Leu429Met)
c.1189T>A (p.Leu397Met)
c.796T>A (p.Leu266Met)
c.1192T>A (p.Leu398Met)
c.223T>A (p.Leu75Met)
20g.63415114A>CCA409646908KCNQ2c.1260T>G (p.Ser420Arg)
c.1314T>G (p.Ser438Arg)
c.711T>G (p.Ser237Arg)
n.75-24T>G
c.1248-24T>G (n.1248-24T>G)
c.906-24T>G (n.906-24T>G)
c.1230T>G (p.Ser410Arg)
c.1218-24T>G (n.1218-24T>G)
c.374T>G
c.1284T>G (p.Ser428Arg)
c.1188T>G (p.Ser396Arg)
c.795T>G (p.Ser265Arg)
c.1191T>G (p.Ser397Arg)
c.222T>G (p.Ser74Arg)
20g.63415114A>GCA511339633KCNQ2c.1260T>C (p.Ser420=)
c.1314T>C (p.Ser438=)
c.711T>C (p.Ser237=)
n.75-24T>C
c.1248-24T>C (n.1248-24T>C)
c.906-24T>C (n.906-24T>C)
c.1230T>C (p.Ser410=)
c.1218-24T>C (n.1218-24T>C)
c.374T>C
c.1284T>C (p.Ser428=)
c.1188T>C (p.Ser396=)
c.795T>C (p.Ser265=)
c.1191T>C (p.Ser397=)
c.222T>C (p.Ser74=)
20g.63415114A>TCA409646911KCNQ2c.1260T>A (p.Ser420Arg)
c.1314T>A (p.Ser438Arg)
c.711T>A (p.Ser237Arg)
n.75-24T>A
c.1248-24T>A (n.1248-24T>A)
c.906-24T>A (n.906-24T>A)
c.1230T>A (p.Ser410Arg)
c.1218-24T>A (n.1218-24T>A)
c.374T>A
c.1284T>A (p.Ser428Arg)
c.1188T>A (p.Ser396Arg)
c.795T>A (p.Ser265Arg)
c.1191T>A (p.Ser397Arg)
c.222T>A (p.Ser74Arg)
20g.63415115C>ACA409646918KCNQ2c.1259G>T (p.Ser420Ile)
c.1313G>T (p.Ser438Ile)
c.710G>T (p.Ser237Ile)
n.75-25G>T
c.1248-25G>T (n.1248-25G>T)
c.906-25G>T (n.906-25G>T)
c.1229G>T (p.Ser410Ile)
c.1218-25G>T (n.1218-25G>T)
c.373G>T
c.1283G>T (p.Ser428Ile)
c.1187G>T (p.Ser396Ile)
c.794G>T (p.Ser265Ile)
c.1190G>T (p.Ser397Ile)
c.221G>T (p.Ser74Ile)
 gnomAD v4
20g.63415115C=CA2374778863KCNQ2c.1259G= (p.Ser420=)
c.1313G= (p.Ser438=)
c.710G= (p.Ser237=)
n.75-25G=
c.1248-25G= (n.1248-25G=)
c.906-25G= (n.906-25G=)
c.1229G= (p.Ser410=)
c.1218-25G= (n.1218-25G=)
c.373G=
c.1283G= (p.Ser428=)
c.1187G= (p.Ser396=)
c.794G= (p.Ser265=)
c.1190G= (p.Ser397=)
c.221G= (p.Ser74=)
20g.63415115C>GCA9958475KCNQ2c.1259G>C (p.Ser420Thr)
c.1313G>C (p.Ser438Thr)
c.710G>C (p.Ser237Thr)
n.75-25G>C
c.1248-25G>C (n.1248-25G>C)
c.906-25G>C (n.906-25G>C)
c.1229G>C (p.Ser410Thr)
c.1218-25G>C (n.1218-25G>C)
c.373G>C
c.1283G>C (p.Ser428Thr)
c.1187G>C (p.Ser396Thr)
c.794G>C (p.Ser265Thr)
c.1190G>C (p.Ser397Thr)
c.221G>C (p.Ser74Thr)
 dbSNP ExAC gnomAD v2
20g.63415115C>TCA409646915KCNQ2c.1259G>A (p.Ser420Asn)
c.1313G>A (p.Ser438Asn)
c.710G>A (p.Ser237Asn)
n.75-25G>A
c.1248-25G>A (n.1248-25G>A)
c.906-25G>A (n.906-25G>A)
c.1229G>A (p.Ser410Asn)
c.1218-25G>A (n.1218-25G>A)
c.373G>A
c.1283G>A (p.Ser428Asn)
c.1187G>A (p.Ser396Asn)
c.794G>A (p.Ser265Asn)
c.1190G>A (p.Ser397Asn)
c.221G>A (p.Ser74Asn)
 gnomAD v4
20g.63415116T>ACA409646919KCNQ2c.1258A>T (p.Ser420Cys)
c.1312A>T (p.Ser438Cys)
c.709A>T (p.Ser237Cys)
n.75-26A>T
c.1248-26A>T (n.1248-26A>T)
c.906-26A>T (n.906-26A>T)
c.1228A>T (p.Ser410Cys)
c.1218-26A>T (n.1218-26A>T)
c.372A>T
c.1282A>T (p.Ser428Cys)
c.1186A>T (p.Ser396Cys)
c.793A>T (p.Ser265Cys)
c.1189A>T (p.Ser397Cys)
c.220A>T (p.Ser74Cys)
20g.63415116T>CCA409646922KCNQ2c.1258A>G (p.Ser420Gly)
c.1312A>G (p.Ser438Gly)
c.709A>G (p.Ser237Gly)
n.75-26A>G
c.1248-26A>G (n.1248-26A>G)
c.906-26A>G (n.906-26A>G)
c.1228A>G (p.Ser410Gly)
c.1218-26A>G (n.1218-26A>G)
c.372A>G
c.1282A>G (p.Ser428Gly)
c.1186A>G (p.Ser396Gly)
c.793A>G (p.Ser265Gly)
c.1189A>G (p.Ser397Gly)
c.220A>G (p.Ser74Gly)
20g.63415116T>GCA409646925KCNQ2c.1258A>C (p.Ser420Arg)
c.1312A>C (p.Ser438Arg)
c.709A>C (p.Ser237Arg)
n.75-26A>C
c.1248-26A>C (n.1248-26A>C)
c.906-26A>C (n.906-26A>C)
c.1228A>C (p.Ser410Arg)
c.1218-26A>C (n.1218-26A>C)
c.372A>C
c.1282A>C (p.Ser428Arg)
c.1186A>C (p.Ser396Arg)
c.793A>C (p.Ser265Arg)
c.1189A>C (p.Ser397Arg)
c.220A>C (p.Ser74Arg)
20g.63415117G>ACA511339637KCNQ2c.1257C>T (p.Val419=)
c.1311C>T (p.Val437=)
c.708C>T (p.Val236=)
n.75-27C>T
c.1248-27C>T (n.1248-27C>T)
c.906-27C>T (n.906-27C>T)
c.1227C>T (p.Val409=)
c.1218-27C>T (n.1218-27C>T)
c.371C>T
c.1281C>T (p.Val427=)
c.1185C>T (p.Val395=)
c.792C>T (p.Val264=)
c.1188C>T (p.Val396=)
c.219C>T (p.Val73=)
20g.63415117G>CCA511339638KCNQ2c.1257C>G (p.Val419=)
c.1311C>G (p.Val437=)
c.708C>G (p.Val236=)
n.75-27C>G
c.1248-27C>G (n.1248-27C>G)
c.906-27C>G (n.906-27C>G)
c.1227C>G (p.Val409=)
c.1218-27C>G (n.1218-27C>G)
c.371C>G
c.1281C>G (p.Val427=)
c.1185C>G (p.Val395=)
c.792C>G (p.Val264=)
c.1188C>G (p.Val396=)
c.219C>G (p.Val73=)
20g.63415117G>TCA511339639KCNQ2c.1257C>A (p.Val419=)
c.1311C>A (p.Val437=)
c.708C>A (p.Val236=)
n.75-27C>A
c.1248-27C>A (n.1248-27C>A)
c.906-27C>A (n.906-27C>A)
c.1227C>A (p.Val409=)
c.1218-27C>A (n.1218-27C>A)
c.371C>A
c.1281C>A (p.Val427=)
c.1185C>A (p.Val395=)
c.792C>A (p.Val264=)
c.1188C>A (p.Val396=)
c.219C>A (p.Val73=)
 gnomAD v4
20g.63415118A>CCA409646926KCNQ2c.1256T>G (p.Val419Gly)
c.1310T>G (p.Val437Gly)
c.707T>G (p.Val236Gly)
n.75-28T>G
c.1248-28T>G (n.1248-28T>G)
c.906-28T>G (n.906-28T>G)
c.1226T>G (p.Val409Gly)
c.1218-28T>G (n.1218-28T>G)
c.370T>G
c.1280T>G (p.Val427Gly)
c.1184T>G (p.Val395Gly)
c.791T>G (p.Val264Gly)
c.1187T>G (p.Val396Gly)
c.218T>G (p.Val73Gly)
20g.63415118A>GCA409646929KCNQ2c.1256T>C (p.Val419Ala)
c.1310T>C (p.Val437Ala)
c.707T>C (p.Val236Ala)
n.75-28T>C
c.1248-28T>C (n.1248-28T>C)
c.906-28T>C (n.906-28T>C)
c.1226T>C (p.Val409Ala)
c.1218-28T>C (n.1218-28T>C)
c.370T>C
c.1280T>C (p.Val427Ala)
c.1184T>C (p.Val395Ala)
c.791T>C (p.Val264Ala)
c.1187T>C (p.Val396Ala)
c.218T>C (p.Val73Ala)
20g.63415118A>TCA409646930KCNQ2c.1256T>A (p.Val419Asp)
c.1310T>A (p.Val437Asp)
c.707T>A (p.Val236Asp)
n.75-28T>A
c.1248-28T>A (n.1248-28T>A)
c.906-28T>A (n.906-28T>A)
c.1226T>A (p.Val409Asp)
c.1218-28T>A (n.1218-28T>A)
c.370T>A
c.1280T>A (p.Val427Asp)
c.1184T>A (p.Val395Asp)
c.791T>A (p.Val264Asp)
c.1187T>A (p.Val396Asp)
c.218T>A (p.Val73Asp)
20g.63415119C>ACA409646933KCNQ2c.1255G>T (p.Val419Phe)
c.1309G>T (p.Val437Phe)
c.706G>T (p.Val236Phe)
n.75-29G>T
c.1248-29G>T (n.1248-29G>T)
c.906-29G>T (n.906-29G>T)
c.1225G>T (p.Val409Phe)
c.1218-29G>T (n.1218-29G>T)
c.369G>T
c.1279G>T (p.Val427Phe)
c.1183G>T (p.Val395Phe)
c.790G>T (p.Val264Phe)
c.1186G>T (p.Val396Phe)
c.217G>T (p.Val73Phe)
20g.63415119C=CA2374778864KCNQ2c.1255G= (p.Val419=)
c.1309G= (p.Val437=)
c.706G= (p.Val236=)
n.75-29G=
c.1248-29G= (n.1248-29G=)
c.906-29G= (n.906-29G=)
c.1225G= (p.Val409=)
c.1218-29G= (n.1218-29G=)
c.369G=
c.1279G= (p.Val427=)
c.1183G= (p.Val395=)
c.790G= (p.Val264=)
c.1186G= (p.Val396=)
c.217G= (p.Val73=)
20g.63415119C>GCA409646936KCNQ2c.1255G>C (p.Val419Leu)
c.1309G>C (p.Val437Leu)
c.706G>C (p.Val236Leu)
n.75-29G>C
c.1248-29G>C (n.1248-29G>C)
c.906-29G>C (n.906-29G>C)
c.1225G>C (p.Val409Leu)
c.1218-29G>C (n.1218-29G>C)
c.369G>C
c.1279G>C (p.Val427Leu)
c.1183G>C (p.Val395Leu)
c.790G>C (p.Val264Leu)
c.1186G>C (p.Val396Leu)
c.217G>C (p.Val73Leu)
 gnomAD v4
20g.63415119C>TCA9958476KCNQ2c.1255G>A (p.Val419Ile)
c.1309G>A (p.Val437Ile)
c.706G>A (p.Val236Ile)
n.75-29G>A
c.1248-29G>A (n.1248-29G>A)
c.906-29G>A (n.906-29G>A)
c.1225G>A (p.Val409Ile)
c.1218-29G>A (n.1218-29G>A)
c.369G>A
c.1279G>A (p.Val427Ile)
c.1183G>A (p.Val395Ile)
c.790G>A (p.Val264Ile)
c.1186G>A (p.Val396Ile)
c.217G>A (p.Val73Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415120C>ACA409646938KCNQ2c.1254G>T (p.Lys418Asn)
c.1308G>T (p.Lys436Asn)
c.705G>T (p.Lys235Asn)
n.75-30G>T
c.1248-30G>T (n.1248-30G>T)
c.906-30G>T (n.906-30G>T)
c.1224G>T (p.Lys408Asn)
c.1218-30G>T (n.1218-30G>T)
c.368G>T
c.1278G>T (p.Lys426Asn)
c.1182G>T (p.Lys394Asn)
c.789G>T (p.Lys263Asn)
c.1185G>T (p.Lys395Asn)
c.216G>T (p.Lys72Asn)
20g.63415120C=CA2374778865KCNQ2c.1254G= (p.Lys418=)
c.1308G= (p.Lys436=)
c.705G= (p.Lys235=)
n.75-30G=
c.1248-30G= (n.1248-30G=)
c.906-30G= (n.906-30G=)
c.1224G= (p.Lys408=)
c.1218-30G= (n.1218-30G=)
c.368G=
c.1278G= (p.Lys426=)
c.1182G= (p.Lys394=)
c.789G= (p.Lys263=)
c.1185G= (p.Lys395=)
c.216G= (p.Lys72=)
20g.63415120C>GCA409646940KCNQ2c.1254G>C (p.Lys418Asn)
c.1308G>C (p.Lys436Asn)
c.705G>C (p.Lys235Asn)
n.75-30G>C
c.1248-30G>C (n.1248-30G>C)
c.906-30G>C (n.906-30G>C)
c.1224G>C (p.Lys408Asn)
c.1218-30G>C (n.1218-30G>C)
c.368G>C
c.1278G>C (p.Lys426Asn)
c.1182G>C (p.Lys394Asn)
c.789G>C (p.Lys263Asn)
c.1185G>C (p.Lys395Asn)
c.216G>C (p.Lys72Asn)
20g.63415120C>TCA317431183KCNQ2c.1254G>A (p.Lys418=)
c.1308G>A (p.Lys436=)
c.705G>A (p.Lys235=)
n.75-30G>A
c.1248-30G>A (n.1248-30G>A)
c.906-30G>A (n.906-30G>A)
c.1224G>A (p.Lys408=)
c.1218-30G>A (n.1218-30G>A)
c.368G>A
c.1278G>A (p.Lys426=)
c.1182G>A (p.Lys394=)
c.789G>A (p.Lys263=)
c.1185G>A (p.Lys395=)
c.216G>A (p.Lys72=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415121T>ACA409646946KCNQ2c.1253A>T (p.Lys418Met)
c.1307A>T (p.Lys436Met)
c.704A>T (p.Lys235Met)
n.75-31A>T
c.1248-31A>T (n.1248-31A>T)
c.906-31A>T (n.906-31A>T)
c.1223A>T (p.Lys408Met)
c.1218-31A>T (n.1218-31A>T)
c.367A>T
c.1277A>T (p.Lys426Met)
c.1181A>T (p.Lys394Met)
c.788A>T (p.Lys263Met)
c.1184A>T (p.Lys395Met)
c.215A>T (p.Lys72Met)
20g.63415121T>CCA409646944KCNQ2c.1253A>G (p.Lys418Arg)
c.1307A>G (p.Lys436Arg)
c.704A>G (p.Lys235Arg)
n.75-31A>G
c.1248-31A>G (n.1248-31A>G)
c.906-31A>G (n.906-31A>G)
c.1223A>G (p.Lys408Arg)
c.1218-31A>G (n.1218-31A>G)
c.367A>G
c.1277A>G (p.Lys426Arg)
c.1181A>G (p.Lys394Arg)
c.788A>G (p.Lys263Arg)
c.1184A>G (p.Lys395Arg)
c.215A>G (p.Lys72Arg)
20g.63415121T>GCA409646943KCNQ2c.1253A>C (p.Lys418Thr)
c.1307A>C (p.Lys436Thr)
c.704A>C (p.Lys235Thr)
n.75-31A>C
c.1248-31A>C (n.1248-31A>C)
c.906-31A>C (n.906-31A>C)
c.1223A>C (p.Lys408Thr)
c.1218-31A>C (n.1218-31A>C)
c.367A>C
c.1277A>C (p.Lys426Thr)
c.1181A>C (p.Lys394Thr)
c.788A>C (p.Lys263Thr)
c.1184A>C (p.Lys395Thr)
c.215A>C (p.Lys72Thr)
20g.63415122T>ACA409646949KCNQ2c.1252A>T (p.Lys418Ter)
c.1306A>T (p.Lys436Ter)
c.703A>T (p.Lys235Ter)
n.75-32A>T
c.1248-32A>T (n.1248-32A>T)
c.906-32A>T (n.906-32A>T)
c.1222A>T (p.Lys408Ter)
c.1218-32A>T (n.1218-32A>T)
c.366A>T
c.1276A>T (p.Lys426Ter)
c.1180A>T (p.Lys394Ter)
c.787A>T (p.Lys263Ter)
c.1183A>T (p.Lys395Ter)
c.214A>T (p.Lys72Ter)
20g.63415122T>CCA409646951KCNQ2c.1252A>G (p.Lys418Glu)
c.1306A>G (p.Lys436Glu)
c.703A>G (p.Lys235Glu)
n.75-32A>G
c.1248-32A>G (n.1248-32A>G)
c.906-32A>G (n.906-32A>G)
c.1222A>G (p.Lys408Glu)
c.1218-32A>G (n.1218-32A>G)
c.366A>G
c.1276A>G (p.Lys426Glu)
c.1180A>G (p.Lys394Glu)
c.787A>G (p.Lys263Glu)
c.1183A>G (p.Lys395Glu)
c.214A>G (p.Lys72Glu)
20g.63415122T>GCA409646954KCNQ2c.1252A>C (p.Lys418Gln)
c.1306A>C (p.Lys436Gln)
c.703A>C (p.Lys235Gln)
n.75-32A>C
c.1248-32A>C (n.1248-32A>C)
c.906-32A>C (n.906-32A>C)
c.1222A>C (p.Lys408Gln)
c.1218-32A>C (n.1218-32A>C)
c.366A>C
c.1276A>C (p.Lys426Gln)
c.1180A>C (p.Lys394Gln)
c.787A>C (p.Lys263Gln)
c.1183A>C (p.Lys395Gln)
c.214A>C (p.Lys72Gln)
20g.63415123C>ACA409646956KCNQ2c.1251G>T (p.Gln417His)
c.1305G>T (p.Gln435His)
c.702G>T (p.Gln234His)
n.75-33G>T
c.1248-33G>T (n.1248-33G>T)
c.906-33G>T (n.906-33G>T)
c.1221G>T (p.Gln407His)
c.1218-33G>T (n.1218-33G>T)
c.365G>T
c.1275G>T (p.Gln425His)
c.1179G>T (p.Gln393His)
c.786G>T (p.Gln262His)
c.1182G>T (p.Gln394His)
c.213G>T (p.Gln71His)
20g.63415123C>GCA409646959KCNQ2c.1251G>C (p.Gln417His)
c.1305G>C (p.Gln435His)
c.702G>C (p.Gln234His)
n.75-33G>C
c.1248-33G>C (n.1248-33G>C)
c.906-33G>C (n.906-33G>C)
c.1221G>C (p.Gln407His)
c.1218-33G>C (n.1218-33G>C)
c.365G>C
c.1275G>C (p.Gln425His)
c.1179G>C (p.Gln393His)
c.786G>C (p.Gln262His)
c.1182G>C (p.Gln394His)
c.213G>C (p.Gln71His)
 gnomAD v4
20g.63415123C>TCA511339649KCNQ2c.1251G>A (p.Gln417=)
c.1305G>A (p.Gln435=)
c.702G>A (p.Gln234=)
n.75-33G>A
c.1248-33G>A (n.1248-33G>A)
c.906-33G>A (n.906-33G>A)
c.1221G>A (p.Gln407=)
c.1218-33G>A (n.1218-33G>A)
c.365G>A
c.1275G>A (p.Gln425=)
c.1179G>A (p.Gln393=)
c.786G>A (p.Gln262=)
c.1182G>A (p.Gln394=)
c.213G>A (p.Gln71=)
20g.63415124T>ACA409646961KCNQ2c.1250A>T (p.Gln417Leu)
c.1304A>T (p.Gln435Leu)
c.701A>T (p.Gln234Leu)
n.75-34A>T
c.1248-34A>T (n.1248-34A>T)
c.906-34A>T (n.906-34A>T)
c.1220A>T (p.Gln407Leu)
c.1218-34A>T (n.1218-34A>T)
c.364A>T
c.1274A>T (p.Gln425Leu)
c.1178A>T (p.Gln393Leu)
c.785A>T (p.Gln262Leu)
c.1181A>T (p.Gln394Leu)
c.212A>T (p.Gln71Leu)
20g.63415124T>CCA409646967KCNQ2c.1250A>G (p.Gln417Arg)
c.1304A>G (p.Gln435Arg)
c.701A>G (p.Gln234Arg)
n.75-34A>G
c.1248-34A>G (n.1248-34A>G)
c.906-34A>G (n.906-34A>G)
c.1220A>G (p.Gln407Arg)
c.1218-34A>G (n.1218-34A>G)
c.364A>G
c.1274A>G (p.Gln425Arg)
c.1178A>G (p.Gln393Arg)
c.785A>G (p.Gln262Arg)
c.1181A>G (p.Gln394Arg)
c.212A>G (p.Gln71Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63415124T>GCA409646970KCNQ2c.1250A>C (p.Gln417Pro)
c.1304A>C (p.Gln435Pro)
c.701A>C (p.Gln234Pro)
n.75-34A>C
c.1248-34A>C (n.1248-34A>C)
c.906-34A>C (n.906-34A>C)
c.1220A>C (p.Gln407Pro)
c.1218-34A>C (n.1218-34A>C)
c.364A>C
c.1274A>C (p.Gln425Pro)
c.1178A>C (p.Gln393Pro)
c.785A>C (p.Gln262Pro)
c.1181A>C (p.Gln394Pro)
c.212A>C (p.Gln71Pro)
20g.63415124T=CA2374778866KCNQ2c.1250A= (p.Gln417=)
c.1304A= (p.Gln435=)
c.701A= (p.Gln234=)
n.75-34A=
c.1248-34A= (n.1248-34A=)
c.906-34A= (n.906-34A=)
c.1220A= (p.Gln407=)
c.1218-34A= (n.1218-34A=)
c.364A=
c.1274A= (p.Gln425=)
c.1178A= (p.Gln393=)
c.785A= (p.Gln262=)
c.1181A= (p.Gln394=)
c.212A= (p.Gln71=)
20g.63415125G>ACA409646974KCNQ2c.1249C>T (p.Gln417Ter)
c.1303C>T (p.Gln435Ter)
c.700C>T (p.Gln234Ter)
n.75-35C>T
c.1248-35C>T (n.1248-35C>T)
c.906-35C>T (n.906-35C>T)
c.1219C>T (p.Gln407Ter)
c.1218-35C>T (n.1218-35C>T)
c.363C>T
c.1273C>T (p.Gln425Ter)
c.1177C>T (p.Gln393Ter)
c.784C>T (p.Gln262Ter)
c.1180C>T (p.Gln394Ter)
c.211C>T (p.Gln71Ter)
 dbSNP gnomAD v3 gnomAD v4
20g.63415125G>CCA409646978KCNQ2c.1249C>G (p.Gln417Glu)
c.1303C>G (p.Gln435Glu)
c.700C>G (p.Gln234Glu)
n.75-35C>G
c.1248-35C>G (n.1248-35C>G)
c.906-35C>G (n.906-35C>G)
c.1219C>G (p.Gln407Glu)
c.1218-35C>G (n.1218-35C>G)
c.363C>G
c.1273C>G (p.Gln425Glu)
c.1177C>G (p.Gln393Glu)
c.784C>G (p.Gln262Glu)
c.1180C>G (p.Gln394Glu)
c.211C>G (p.Gln71Glu)
20g.63415125G=CA2374778867KCNQ2c.1249C= (p.Gln417=)
c.1303C= (p.Gln435=)
c.700C= (p.Gln234=)
n.75-35C=
c.1248-35C= (n.1248-35C=)
c.906-35C= (n.906-35C=)
c.1219C= (p.Gln407=)
c.1218-35C= (n.1218-35C=)
c.363C=
c.1273C= (p.Gln425=)
c.1177C= (p.Gln393=)
c.784C= (p.Gln262=)
c.1180C= (p.Gln394=)
c.211C= (p.Gln71=)
20g.63415125G>TCA409646981KCNQ2c.1249C>A (p.Gln417Lys)
c.1303C>A (p.Gln435Lys)
c.700C>A (p.Gln234Lys)
n.75-35C>A
c.1248-35C>A (n.1248-35C>A)
c.906-35C>A (n.906-35C>A)
c.1219C>A (p.Gln407Lys)
c.1218-35C>A (n.1218-35C>A)
c.363C>A
c.1273C>A (p.Gln425Lys)
c.1177C>A (p.Gln393Lys)
c.784C>A (p.Gln262Lys)
c.1180C>A (p.Gln394Lys)
c.211C>A (p.Gln71Lys)
 gnomAD v4
20g.63415126G>ACA511339653KCNQ2c.1248C>T (p.Ser416=)
c.1302C>T (p.Ser434=)
c.699C>T (p.Ser233=)
n.75-36C>T
c.1248-36C>T (n.1248-36C>T)
c.906-36C>T (n.906-36C>T)
c.1218C>T (p.Ser406=)
c.1218-36C>T (n.1218-36C>T)
c.362C>T
c.1272C>T (p.Ser424=)
c.1176C>T (p.Ser392=)
c.783C>T (p.Ser261=)
c.1179C>T (p.Ser393=)
c.210C>T (p.Ser70=)
 gnomAD v4
20g.63415126G>CCA409646983KCNQ2c.1248C>G (p.Ser416Arg)
c.1302C>G (p.Ser434Arg)
c.699C>G (p.Ser233Arg)
n.75-36C>G
c.1248-36C>G (n.1248-36C>G)
c.906-36C>G (n.906-36C>G)
c.1218C>G (p.Ser406Arg)
c.1218-36C>G (n.1218-36C>G)
c.362C>G
c.1272C>G (p.Ser424Arg)
c.1176C>G (p.Ser392Arg)
c.783C>G (p.Ser261Arg)
c.1179C>G (p.Ser393Arg)
c.210C>G (p.Ser70Arg)
20g.63415126G>TCA409646984KCNQ2c.1248C>A (p.Ser416Arg)
c.1302C>A (p.Ser434Arg)
c.699C>A (p.Ser233Arg)
n.75-36C>A
c.1248-36C>A (n.1248-36C>A)
c.906-36C>A (n.906-36C>A)
c.1218C>A (p.Ser406Arg)
c.1218-36C>A (n.1218-36C>A)
c.362C>A
c.1272C>A (p.Ser424Arg)
c.1176C>A (p.Ser392Arg)
c.783C>A (p.Ser261Arg)
c.1179C>A (p.Ser393Arg)
c.210C>A (p.Ser70Arg)
 gnomAD v4
20g.63415127C>ACA409646993KCNQ2c.1248-1G>T (n.1248-1G>T)
c.1302-1G>T (n.1302-1G>T)
c.699-1G>T (n.699-1G>T)
n.75-37G>T
c.1248-37G>T (n.1248-37G>T)
c.906-37G>T (n.906-37G>T)
c.1218-1G>T (n.1218-1G>T)
c.1218-37G>T (n.1218-37G>T)
c.362-1G>T
c.1272-1G>T (n.1272-1G>T)
c.1176-1G>T (n.1176-1G>T)
c.783-1G>T (n.783-1G>T)
c.1179-1G>T (n.1179-1G>T)
c.210-1G>T (n.210-1G>T)
 ClinVar
20g.63415127C=CA2374778868KCNQ2c.1248-1G= (n.1248-1G=)
c.1302-1G= (n.1302-1G=)
c.699-1G= (n.699-1G=)
n.75-37G=
c.1248-37G= (n.1248-37G=)
c.906-37G= (n.906-37G=)
c.1218-1G= (n.1218-1G=)
c.1218-37G= (n.1218-37G=)
c.362-1G=
c.1272-1G= (n.1272-1G=)
c.1176-1G= (n.1176-1G=)
c.783-1G= (n.783-1G=)
c.1179-1G= (n.1179-1G=)
c.210-1G= (n.210-1G=)
20g.63415127C>GCA342545KCNQ2c.1248-1G>C (n.1248-1G>C)
c.1302-1G>C (n.1302-1G>C)
c.699-1G>C (n.699-1G>C)
n.75-37G>C
c.1248-37G>C (n.1248-37G>C)
c.906-37G>C (n.906-37G>C)
c.1218-1G>C (n.1218-1G>C)
c.1218-37G>C (n.1218-37G>C)
c.362-1G>C
c.1272-1G>C (n.1272-1G>C)
c.1176-1G>C (n.1176-1G>C)
c.783-1G>C (n.783-1G>C)
c.1179-1G>C (n.1179-1G>C)
c.210-1G>C (n.210-1G>C)
 ClinVar dbSNP
20g.63415127C>TCA409646987KCNQ2c.1248-1G>A (n.1248-1G>A)
c.1302-1G>A (n.1302-1G>A)
c.699-1G>A (n.699-1G>A)
n.75-37G>A
c.1248-37G>A (n.1248-37G>A)
c.906-37G>A (n.906-37G>A)
c.1218-1G>A (n.1218-1G>A)
c.1218-37G>A (n.1218-37G>A)
c.362-1G>A
c.1272-1G>A (n.1272-1G>A)
c.1176-1G>A (n.1176-1G>A)
c.783-1G>A (n.783-1G>A)
c.1179-1G>A (n.1179-1G>A)
c.210-1G>A (n.210-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415128T>ACA409646998KCNQ2c.1248-2A>T (n.1248-2A>T)
c.1302-2A>T (n.1302-2A>T)
c.699-2A>T (n.699-2A>T)
n.75-38A>T
c.1248-38A>T (n.1248-38A>T)
c.906-38A>T (n.906-38A>T)
c.1218-2A>T (n.1218-2A>T)
c.1218-38A>T (n.1218-38A>T)
c.362-2A>T
c.1272-2A>T (n.1272-2A>T)
c.1176-2A>T (n.1176-2A>T)
c.783-2A>T (n.783-2A>T)
c.1179-2A>T (n.1179-2A>T)
c.210-2A>T (n.210-2A>T)
20g.63415128T>CCA409646996KCNQ2c.1248-2A>G (n.1248-2A>G)
c.1302-2A>G (n.1302-2A>G)
c.699-2A>G (n.699-2A>G)
n.75-38A>G
c.1248-38A>G (n.1248-38A>G)
c.906-38A>G (n.906-38A>G)
c.1218-2A>G (n.1218-2A>G)
c.1218-38A>G (n.1218-38A>G)
c.362-2A>G
c.1272-2A>G (n.1272-2A>G)
c.1176-2A>G (n.1176-2A>G)
c.783-2A>G (n.783-2A>G)
c.1179-2A>G (n.1179-2A>G)
c.210-2A>G (n.210-2A>G)
20g.63415128T>GCA409647001KCNQ2c.1248-2A>C (n.1248-2A>C)
c.1302-2A>C (n.1302-2A>C)
c.699-2A>C (n.699-2A>C)
n.75-38A>C
c.1248-38A>C (n.1248-38A>C)
c.906-38A>C (n.906-38A>C)
c.1218-2A>C (n.1218-2A>C)
c.1218-38A>C (n.1218-38A>C)
c.362-2A>C
c.1272-2A>C (n.1272-2A>C)
c.1176-2A>C (n.1176-2A>C)
c.783-2A>C (n.783-2A>C)
c.1179-2A>C (n.1179-2A>C)
c.210-2A>C (n.210-2A>C)
20g.63415129G>ACA2653800782KCNQ2c.1248-3C>T (n.1248-3C>T)
c.1302-3C>T (n.1302-3C>T)
c.699-3C>T (n.699-3C>T)
n.75-39C>T
c.1248-39C>T (n.1248-39C>T)
c.906-39C>T (n.906-39C>T)
c.1218-3C>T (n.1218-3C>T)
c.1218-39C>T (n.1218-39C>T)
c.362-3C>T
c.1272-3C>T (n.1272-3C>T)
c.1176-3C>T (n.1176-3C>T)
c.783-3C>T (n.783-3C>T)
c.1179-3C>T (n.1179-3C>T)
c.210-3C>T (n.210-3C>T)
 gnomAD v4
20g.63415129G>TCA2653800781KCNQ2c.1248-3C>A (n.1248-3C>A)
c.1302-3C>A (n.1302-3C>A)
c.699-3C>A (n.699-3C>A)
n.75-39C>A
c.1248-39C>A (n.1248-39C>A)
c.906-39C>A (n.906-39C>A)
c.1218-3C>A (n.1218-3C>A)
c.1218-39C>A (n.1218-39C>A)
c.362-3C>A
c.1272-3C>A (n.1272-3C>A)
c.1176-3C>A (n.1176-3C>A)
c.783-3C>A (n.783-3C>A)
c.1179-3C>A (n.1179-3C>A)
c.210-3C>A (n.210-3C>A)
 gnomAD v4
20g.63415130C>ACA2653800783KCNQ2c.1248-4G>T (n.1248-4G>T)
c.1302-4G>T (n.1302-4G>T)
c.699-4G>T (n.699-4G>T)
n.75-40G>T
c.1248-40G>T (n.1248-40G>T)
c.906-40G>T (n.906-40G>T)
c.1218-4G>T (n.1218-4G>T)
c.1218-40G>T (n.1218-40G>T)
c.362-4G>T
c.1272-4G>T (n.1272-4G>T)
c.1176-4G>T (n.1176-4G>T)
c.783-4G>T (n.783-4G>T)
c.1179-4G>T (n.1179-4G>T)
c.210-4G>T (n.210-4G>T)
 gnomAD v4
20g.63415130C=CA2374778869KCNQ2c.1248-4G= (n.1248-4G=)
c.1302-4G= (n.1302-4G=)
c.699-4G= (n.699-4G=)
n.75-40G=
c.1248-40G= (n.1248-40G=)
c.906-40G= (n.906-40G=)
c.1218-4G= (n.1218-4G=)
c.1218-40G= (n.1218-40G=)
c.362-4G=
c.1272-4G= (n.1272-4G=)
c.1176-4G= (n.1176-4G=)
c.783-4G= (n.783-4G=)
c.1179-4G= (n.1179-4G=)
c.210-4G= (n.210-4G=)
20g.63415130C>TCA317431185KCNQ2c.1248-4G>A (n.1248-4G>A)
c.1302-4G>A (n.1302-4G>A)
c.699-4G>A (n.699-4G>A)
n.75-40G>A
c.1248-40G>A (n.1248-40G>A)
c.906-40G>A (n.906-40G>A)
c.1218-4G>A (n.1218-4G>A)
c.1218-40G>A (n.1218-40G>A)
c.362-4G>A
c.1272-4G>A (n.1272-4G>A)
c.1176-4G>A (n.1176-4G>A)
c.783-4G>A (n.783-4G>A)
c.1179-4G>A (n.1179-4G>A)
c.210-4G>A (n.210-4G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.63415132C=CA2374778870KCNQ2c.1248-6G= (n.1248-6G=)
c.1302-6G= (n.1302-6G=)
c.699-6G= (n.699-6G=)
n.75-42G=
c.1248-42G= (n.1248-42G=)
c.906-42G= (n.906-42G=)
c.1218-6G= (n.1218-6G=)
c.1218-42G= (n.1218-42G=)
c.362-6G=
c.1272-6G= (n.1272-6G=)
c.1176-6G= (n.1176-6G=)
c.783-6G= (n.783-6G=)
c.1179-6G= (n.1179-6G=)
c.210-6G= (n.210-6G=)
20g.63415132C>GCA2739277259KCNQ2c.1248-6G>C (n.1248-6G>C)
c.1302-6G>C (n.1302-6G>C)
c.699-6G>C (n.699-6G>C)
n.75-42G>C
c.1248-42G>C (n.1248-42G>C)
c.906-42G>C (n.906-42G>C)
c.1218-6G>C (n.1218-6G>C)
c.1218-42G>C (n.1218-42G>C)
c.362-6G>C
c.1272-6G>C (n.1272-6G>C)
c.1176-6G>C (n.1176-6G>C)
c.783-6G>C (n.783-6G>C)
c.1179-6G>C (n.1179-6G>C)
c.210-6G>C (n.210-6G>C)
 ClinVar
20g.63415132C>TCA9958477KCNQ2c.1248-6G>A (n.1248-6G>A)
c.1302-6G>A (n.1302-6G>A)
c.699-6G>A (n.699-6G>A)
n.75-42G>A
c.1248-42G>A (n.1248-42G>A)
c.906-42G>A (n.906-42G>A)
c.1218-6G>A (n.1218-6G>A)
c.1218-42G>A (n.1218-42G>A)
c.362-6G>A
c.1272-6G>A (n.1272-6G>A)
c.1176-6G>A (n.1176-6G>A)
c.783-6G>A (n.783-6G>A)
c.1179-6G>A (n.1179-6G>A)
c.210-6G>A (n.210-6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415133C>ACA636614197KCNQ2c.1248-7G>T (n.1248-7G>T)
c.1302-7G>T (n.1302-7G>T)
c.699-7G>T (n.699-7G>T)
n.75-43G>T
c.1248-43G>T (n.1248-43G>T)
c.906-43G>T (n.906-43G>T)
c.1218-7G>T (n.1218-7G>T)
c.1218-43G>T (n.1218-43G>T)
c.362-7G>T
c.1272-7G>T (n.1272-7G>T)
c.1176-7G>T (n.1176-7G>T)
c.783-7G>T (n.783-7G>T)
c.1179-7G>T (n.1179-7G>T)
c.210-7G>T (n.210-7G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63415133C=CA2374778871KCNQ2c.1248-7G= (n.1248-7G=)
c.1302-7G= (n.1302-7G=)
c.699-7G= (n.699-7G=)
n.75-43G=
c.1248-43G= (n.1248-43G=)
c.906-43G= (n.906-43G=)
c.1218-7G= (n.1218-7G=)
c.1218-43G= (n.1218-43G=)
c.362-7G=
c.1272-7G= (n.1272-7G=)
c.1176-7G= (n.1176-7G=)
c.783-7G= (n.783-7G=)
c.1179-7G= (n.1179-7G=)
c.210-7G= (n.210-7G=)

Number of alleles fetched